13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia-Reference-Cited by-同舟云学术

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia

Published:2015-10 Issue:10 Volume:58 Page:526-530
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Poreau Brice,Lin Stéphanie,Bosson Caroline,Dieterich Klaus,Satre Véronique,Devillard Françoise,Guigue Virginie,Ronin Candice,Brouillet Sophie,Barbier Christophe,Jouk Pierre-Simon,Coutton Charles

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally;Baple;Mol. Syndromol.,2010

2. Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?;Chung;Am. J. Med. Genet. A,2012

3. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources;Firth;Am. J. Hum. Genet.,2009

4. Costello syndrome;Gripp,1993

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4. Characteristics of rare and private deletions identified in phenotypically normal individuals;Human Genome Variation;2017-09-14

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