Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1-Reference-Cited by-同舟云学术

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Published:2010-05 Issue:5 Volume:152A Page:1213-1224
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mitter Diana,Chiaie Barbara Delle,Lüdecke Hermann-Josef,Gillessen-Kaesbach Gabriele,Bohring Axel,Kohlhase Jürgen,Caliebe Almuth,Siebert Reiner,Roepke Albrecht,Ramos-Arroyo Maria A.,Nieva Beatriz,Menten Björn,Loeys Bart,Mortier Geert,Wieczorek Dagmar

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference49 articles.

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2. Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33);Benson;Am J Med Genet,1986

3. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus;Bijlsma;Prenat Diagn,2005

4. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye;Boehm;Hum Mutat,2004

5. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: Case report and review;Boles;Am J Med Genet,1995

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