First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2-Reference-Cited by-同舟云学术

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

Published:2017-10 Issue:4 Volume:26 Page:231-234
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Vuillaume Marie-Laure,Valard Anna-Gaelle,Houcinat Nada,Bouron Julie,Boucher Cécile,Deves Sylvie,Toutain Jérôme,Schaub Bruno,Adenet Clara,Lacombe Didier,Gueneret Michèle,Rooryck Caroline

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2;Chénier;Am J Med Genet A,2012

2. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma;Fujita;Am J Med Genet A,2014

3. Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion;Herman;Am J Med Genet A,2013

4. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus;Holman;Clin Genet,2013

5. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis;Jenkins;Nat Genet,2009

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1. Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis;Genes;2020-11-30