Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
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[1] L. Garavelli,et al. Mowat-Wilson syndrome , 2007, Orphanet journal of rare diseases.
[2] A. Salt,et al. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21 , 2004, American journal of medical genetics. Part A.
[3] K. Tanaka,et al. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1 , 2004, Journal of Medical Genetics.
[4] A. Munnich,et al. Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum , 2004, Prenatal diagnosis.
[5] Dian Donnai,et al. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B , 2003, American journal of medical genetics. Part A.
[6] M. Goossens,et al. Mowat-Wilson syndrome , 2003, Journal of Medical Genetics.
[7] A. Rauch,et al. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. , 2002, American journal of medical genetics.
[8] M. Goossens,et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. , 2001, Human molecular genetics.
[9] N. Nomura,et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease , 2001, Nature Genetics.
[10] G. Mettler,et al. Recurrence risk for sibs of children with "sporadic" achondroplasia. , 2000, American journal of medical genetics.
[11] H. Northrup,et al. Germ-line mosaicism in tuberous sclerosis: how common? , 1999, American journal of human genetics.
[12] B. Kerr,et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. , 1998, Journal of medical genetics.
[13] Joël Zlotogora,et al. Germ line mosaicism , 1998, Human Genetics.
[14] M. Meulen,et al. Recurrence risk for germinal mosaics revisited. , 1995 .
[15] Denise Horn,et al. Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease , 2004, American journal of medical genetics. Part A.