Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS-Reference-Cited by-同舟云学术

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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Published:2012-12-11 Issue:2 Volume:50 Page:80-90
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

McDonald-McGinn Donna M,Fahiminiya Somayyeh,Revil Timothée,Nowakowska Beata A,Suhl Joshua,Bailey Alice,Mlynarski Elisabeth,Lynch David R,Yan Albert C,Bilaniuk Larissa T,Sullivan Kathleen E,Warren Stephen T,Emanuel Beverly S,Vermeesch Joris R,Zackai Elaine H,Jerome-Majewska Loydie A

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 102 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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2. Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion;Children;2024-04-19

3. Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay;American Journal of Medical Genetics Part A;2023-06-27

4. Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome;Genes;2023-03-09

5. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome;Genetics in Medicine;2023-03

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