Associated Papers
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
Enomoto Y et al.
Congenital Anomalies, 2018
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Hague J et al.
American Journal of Medical Genetics. Part A, 2017
Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
Perdu B et al.
Clinical Genetics, 2011
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Holman SK et al.
American Journal of Medical Genetics. Part A, 2011
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Jenkins ZA et al.
Nature Genetics, 2009
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