Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

[1]  Kanxing Zhao,et al.  Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis , 2014, PloS one.

[2]  Kanxing Zhao,et al.  Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa , 2014, Molecular vision.

[3]  Kanxing Zhao,et al.  Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2 , 2014, PloS one.

[4]  C. Cheon,et al.  A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature , 2014, Annals of pediatric endocrinology & metabolism.

[5]  D. Vollrath,et al.  PRPF4 mutations cause autosomal dominant retinitis pigmentosa. , 2014, Human molecular genetics.

[6]  Fei Xu,et al.  Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. , 2013, Investigative ophthalmology & visual science.

[7]  Chen Zhao,et al.  Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families , 2013, Molecular vision.

[8]  D. Vollrath,et al.  Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. , 2013, Investigative ophthalmology & visual science.

[9]  V. Chalifa-Caspi,et al.  Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. , 2010, American journal of human genetics.

[10]  Hanlee P. Ji,et al.  Next-generation DNA sequencing , 2008, Nature Biotechnology.

[11]  P. Robinson,et al.  Marfan syndrome: an update of genetics, medical and surgical management , 2007, Heart.

[12]  T. Strom,et al.  DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis , 2006, Nature Genetics.

[13]  C. Larsson,et al.  A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1 , 2006, Human Genetics.

[14]  Yusuke Nakamura,et al.  Heterozygous TGFBR2 mutations in Marfan syndrome , 2004, Nature Genetics.

[15]  Joseph L. Goldstein,et al.  Structure of the LDL Receptor Extracellular Domain at Endosomal pH , 2002, Science.

[16]  T. Meitinger,et al.  Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 , 2000, Nature Genetics.

[17]  L. Kunkel,et al.  Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. , 1997, American journal of human genetics.

[18]  H. Mefford,et al.  Marfan Syndrome -- GeneReviews(®) , 2016 .

[19]  H. Mefford,et al.  X-Linked Hypophosphatemia -- GeneReviews(®) , 2016 .