Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature-Reference-Cited by-同舟云学术

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Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature

Published:2021-11 Issue:11 Volume:64 Page:104318
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Papamichail Maria,Manolakos Emmanouil,Papoulidis Ioannis,Siomou Elisavet,Eleftheriades Anna,Marinakis Ioannis,Tzanakis Konstantinos,Sartsidis Anastasios,Vlahos Nikolaos F.,Eleftheriades Makarios

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference15 articles.

1. Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant;Aiyar;Clin. Dysmorphol.,2019

2. The clinical manifestations and genetic implications of baraitser-winter syndrome type 2;Allawh;J. Pediatr. Genet.,2017

3. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome;Baraitser;J. Med. Genet.,1988

4. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis;Boissel;Genet. Med.,2018

5. Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations;Di Donato;Eur. J. Hum. Genet.,2014

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome;American Journal of Medical Genetics Part A;2024-05-24

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