Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

[1]  Damian Smedley,et al.  Jannovar: A Java Library for Exome Annotation , 2014, Human mutation.

[2]  Judith A. Blake,et al.  The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse , 2013, Nucleic Acids Res..

[3]  Y. Ekinci,et al.  A patient with hyperphalangism: the milder phenotype of Catel–Manzke syndrome , 2013, Clinical dysmorphology.

[4]  Tom Kamphans,et al.  Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects , 2013, Genome Medicine.

[5]  Y. Kallberg,et al.  Classification and nomenclature of the superfamily of short-chain dehydrogenases/reductases (SDRs). , 2013, Chemico-biological interactions.

[6]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[7]  D. Sillence,et al.  IMPAD1 mutations in two Catel‐Manzke like patients , 2012, American journal of medical genetics. Part A.

[8]  Tom Kamphans,et al.  GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes , 2012, Bioinform..

[9]  Jacob A. Tennessen,et al.  Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.

[10]  D. Sillence,et al.  Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis , 2012, Human mutation.

[11]  Heng Li,et al.  A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data , 2011, Bioinform..

[12]  Y. Alanay,et al.  Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance , 2011, American journal of medical genetics. Part A.

[13]  L. Vissers,et al.  Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. , 2011, American journal of human genetics.

[14]  S. Kapoor,et al.  Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome. , 2011, Clinical Dysmorphology.

[15]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[16]  R. Hegele,et al.  Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. , 2010, American journal of human genetics.

[17]  Jana Marie Schwarz,et al.  MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.

[18]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[19]  A. Munnich,et al.  Identification of CANT1 mutations in Desbuquois dysplasia. , 2009, American journal of human genetics.

[20]  Janet M Thornton,et al.  The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. , 2009, Chemico-biological interactions.

[21]  Rachel Karchin,et al.  Next generation tools for the annotation of human SNPs , 2009, Briefings Bioinform..

[22]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[23]  P. Robinson,et al.  The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. , 2008, American journal of human genetics.

[24]  E. Klopocki,et al.  Catel-Manzke syndrome: two new patients and a critical review of the literature. , 2008, European journal of medical genetics.

[25]  J. Graf,et al.  Die Hyperphalangie beim Pierre-Robin-Syndrom , 2008 .

[26]  H. Muller The American Journal of Human Genetics Vol . 2 No . 2 June 1950 Our Load of Mutations 1 , 2006 .

[27]  T. Homfray,et al.  Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome? , 2004, Clinical dysmorphology.

[28]  E. Brude Pierre Robin sequence and hyperphalangy—a genetic entity , 1984, European Journal of Pediatrics.

[29]  A. Cerutti,et al.  Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: A possible new palato-digital syndrome , 1977, Pediatric Radiology.

[30]  S. Phadke,et al.  Catel-Manzke syndrome without cleft palate: a case report. , 2003, Clinical dysmorphology.

[31]  Adam C Resnick,et al.  UDP-glucuronate Decarboxylase, a Key Enzyme in Proteoglycan Synthesis , 2002, The Journal of Biological Chemistry.

[32]  D. Buck-Gramcko Congenital malformations of the hand and forearm. , 1998, Chirurgie de la main.

[33]  H. Kitagawa,et al.  Molecular Cloning and Expression of a Human Chondroitin Synthase* , 2001, The Journal of Biological Chemistry.

[34]  P. Donnelly,et al.  A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.

[35]  S. Ba Congenital malformations of the hand and forearm , 2000 .

[36]  J. Naismith,et al.  The rhamnose pathway. , 2000, Current opinion in structural biology.

[37]  Eun Young Kim,et al.  A Case of Catel Manzke Syndrome , 1999 .

[38]  N. Meguid,et al.  A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. , 1998, Clinical dysmorphology.

[39]  H. Zonderland,et al.  The Catel-Manzke syndrome in a female infant. , 1998, Genetic counseling.

[40]  A. Dudin,et al.  Choledochal cyst associated with rare hand malformation. , 1995, American journal of medical genetics.

[41]  Golder N Wilson,et al.  Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? , 1993, American journal of medical genetics.

[42]  E. Myers,et al.  Basic local alignment search tool. , 1990, Journal of molecular biology.

[43]  M. Schiltenwolf,et al.  Das Catel-Manzke-Syndrom , 1990 .

[44]  M. Schiltenwolf,et al.  [Catel-Manzke syndrome]. , 1990, Klinische Padiatrie.

[45]  M. Schiltenwolf,et al.  [Hyperphalangia in Pierre-Robin syndrome]. , 1990, Zeitschrift fur Orthopadie und ihre Grenzgebiete.

[46]  J. Reiss,et al.  A genetic follow-up study of 64 patients with the Pierre Robin complex. , 1987, American journal of medical genetics.

[47]  E. J. Zenni,et al.  Pierre Robin anomaly with an accessory metacarpal of the index fingers , 1986, Clinical genetics.

[48]  W. Webster,et al.  Maternal hyperphenylalaninemia fetal effects. , 1984, The Journal of pediatrics.

[49]  L. D. Ketchum,et al.  Symmetric hyperphalangism of the index finger in the palatodigital syndrome: a case report. , 1983, The Journal of hand surgery.

[50]  J. Keating,et al.  Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel‐Manzke syndrome. A case report and review of the literature , 1982, Clinical genetics.

[51]  R. Stevenson,et al.  A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton. , 1980, Journal of medical genetics.

[52]  C. Carter,et al.  Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. , 1978, Journal of medical genetics.

[53]  W. Holthusen [The Pierre Robin syndrome: unusual associated developmental defects]. , 1972, Annales de radiologie.

[54]  P. Farnsworth,et al.  Glossoptotic hypoxia and micrognathia--the Pierre Robin syndrome reviewed. Early recognition and prompt surgical treatment is important for survival. , 1971, Clinical pediatrics.

[55]  S. Pruzansky,et al.  Facial clefting and its syndromes. , 1971, Birth defects original article series.

[56]  H. Manzke,et al.  Symmetrische Hyperphalangie des zweiten Fingers durch ein akzessorisches Metacarpale , 1966 .

[57]  H. Manzke [Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone]. , 1966, Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin.

[58]  F. N. Silverman,et al.  Syndromes of the Head and Neck. , 1965 .

[59]  Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen , 1961 .

[60]  J. Clayton-Smith Syndromes of the Head and Neck , 1993 .

[61]  S. Edward,et al.  A male infant with the Catel-Manzke syndrome and dislocatable knees , 2022 .