Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies-Reference-Cited by-同舟云学术

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies

Published:2010-11-24 Issue:12 Volume:152A Page:3148-3153
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Al-Kateb Hussam,Hahn Amanda,Gastier-Foster Julie M.,Jeng Linda,McCandless Shawn E.,Curtis Christine A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

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5. Molecular interaction between TLE1 and the carboxyl-terminal domain of HES-1 containing the WRPW motif;Grbavec;Biochem Biophys Res Commun,1996

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1. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene;Italian Journal of Pediatrics;2022-05-04

2. 19p13.3 Deletion With Polyotia: A Case Report and Literature Review;Cureus;2021-11-17

3. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions;Journal of Human Genetics;2019-10-23

4. Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion;Case Reports in Genetics;2018

5. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017