Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22-Reference-Cited by-同舟云学术

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

Published:2013-09-24 Issue:12 Volume:161 Page:3176-3181
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Blassnig-Ezeh Anya¹,Bandelier Claude²,Frühmesser Anne³,Revencu Nicole²,Krabichler Birgit³,Beauloye Véronique⁴,Ravoet Marie²,Fauth Christine³,Zschocke Johannes³,Simma Burkhard¹,Kotzot Dieter³

Affiliation:

1. Department of Pediatrics, Landeskrankenhaus Feldkirch; Academic Teaching Hospital; Austria

2. Center for Human Genetics; Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

3. Division of Human Genetics, Department of Medical Genetics; Molecular and Clinical Pharmacology, Innsbruck Medical University; Innsbruck Austria

4. Paediatric Endocrinology Unit, Cliniques universitaires Saint-Luc; Université catholique de Louvain; Brussels Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36176/fullpdf

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3. Insulin-stimulated GLUT4 translocation requires the CAP-dependent activation of TC10;Chiang;Nature,2001

4. The TC10-Exo70 complex is essential for membrane expansion and axonal specification in developing neurons;Dupraz;J Neurosci,2009

5. Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication;Guilherme;Am J Med Genet A,2009

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1. 17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature;Molecular Syndromology;2018

2. Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences;Cytogenetic and Genome Research;2017

3. Oculofacial Manifestations of Chromosomal Aberrations;The Eye in Pediatric Systemic Disease;2017

4. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature;European Journal of Endocrinology;2016-04

5. Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up;Molecular Cytogenetics;2014-08-19