A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state-Reference-Cited by-同舟云学术

A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

Published:2012-11 Issue:11 Volume:55 Page:660-665
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Freitas Érika L.,Gribble Susan M.,Simioni Milena,Vieira Társis P.,Prigmore Elena,Krepischi Ana C.,Rosenberg Carla,Pearson Peter L.,Melo Débora G.,Gil-da-Silva-Lopes Vera Lúcia

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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5. ALX4 dysfunction disrupts craniofacial and epidermal development;Kayserili;Hum. Mol. Genet.,2009

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1. Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome;Acta Oto-Laryngologica;2019-08-12

2. Catatonia in Children and Adolescents: A High Rate of Genetic Conditions;Journal of the American Academy of Child & Adolescent Psychiatry;2018-07

3. Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions;Molecular Cytogenetics;2017-05-19

4. Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements;Molecular Cytogenetics;2016-01-28

5. De novo 2q36.1q36.3 interstitial deletion involving thePAX3andEPHA4genes in a fetus with spina bifida and cleft palate;Birth Defects Research Part A: Clinical and Molecular Teratology;2014-04-18