3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs-Reference-Cited by-同舟云学术

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs

Published:2009-07-16 Issue:8 Volume:149A Page:1777-1781
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Digilio Maria Cristina,Bernardini Laura,Mingarelli Rita,Capolino Rossella,Capalbo Anna,Giuffrida Maria Grazia,Versacci Paolo,Novelli Antonio,Dallapiccola Bruno

Funder

Italian Ministry of Health

Istituto Superiore di Sanità

European Commission Executive Agency for Health and Consumers

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32965/fullpdf

Reference7 articles.

1. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008

2. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication;Bernardini;Am J Med Genet Part A,2007

3. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA);Koolen;J Med Genet,2004

4. Whole-genome array-CGH screening in undiagnosed syndromic patients: Old syndromes revisited and new alterations;Krepiski-Santos;Cytogenet Genome Res,2006

5. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations;Rossi;J Med Genet,2001

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1. Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome;2022-03-02

2. 3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report;The Turkish Journal of Pediatrics;2022

3. Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: “We Can't Just Wish This Thing Away”;Journal of Developmental & Behavioral Pediatrics;2021-07-27

4. Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect;Medicine;2021-01-08

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