Prenatal diagnosis of osteopathia striata with cranial sclerosis-Reference-Cited by-同舟云学术

Prenatal diagnosis of osteopathia striata with cranial sclerosis

Published:2014-11-26 Issue:3 Volume:35 Page:302-304
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Vasiljevic Alexandre¹,Azzi Caroline²,Lacalm Audrey³,Combourieu Daniele²,Collardeau-Frachon Sophie¹,Dijoud Frédérique¹,Massardier Jerôme²,Van Hul Wim⁴,Fromageoux Caroline⁵,Guibaud Laurent²³,Gaucherand Pascal²,Cordier Marie-Pierre²⁶,Massoud Mona²

Affiliation:

1. Laboratoire de Pathologie, Hôpital Femme Mère Enfant; Université Claude Bernard Lyon I; Lyon France

2. Centre Pluridisciplinaire de Diagnostic Prénatal; Hôpital Femme Mère Enfant; Lyon France

3. Département d'imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant; Université Claude Bernard Lyon I; Lyon France

4. Department of Medical Genetics; University of Antwerp; Antwerp Belgium

5. Service d'Obstétrique, clinique de Guilherand-Granges; Guilherand-Granges France

6. Service de Génétique, Hôpital Femme Mère Enfant; Université Claude Bernard Lyon I; Lyon France

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference8 articles.

1. Conductive hearing loss in osteopathia striata-cranial sclerosis;Berenholz;Otolaryngol Head Neck Surg,2002

2. Osteopathia striata with cranial sclerosis: highly variable expression within a family including cleft palate in two neonatal cases;Winter;Clin Genet,1980

3. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis;Perdu;Clin Genet,2011

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

5. The male phenotype in osteopathia striata congenita with cranial sclerosis;Holman;Am J Med Genet A,2011

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1. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene;Italian Journal of Pediatrics;2022-12-29

2. Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis;Medicine;2021-10-08

3. Osteopathia striata in the mandible with cranial sclerosis: a case report and review of the literature;Journal of the Korean Association of Oral and Maxillofacial Surgeons;2021-04-30

4. 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;Clinical Dysmorphology;2017-10

5. Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development;Genetics in Medicine;2017-10