Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1-Reference-Cited by-同舟云学术

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Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

Published:2017-11-01 Issue:6 Volume:37 Page:563-565
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Park Hae-Yeon¹,Kim Myungshin²³,Jang Woori²³,Jang Dae-Hyun¹

Affiliation:

1. Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary’s Hospital, Incheon, Korea

2. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea

3. Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea

Funder

Seoul St. Mary’s Hospital, The Catholic University of Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2017.37.6.563

Reference4 articles.

1. Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

2. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome

3. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Cited by 13 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

1. <i>De novo</i> <i>AHDC1</i> Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome;Molecular Syndromology;2024-05-20

2. Ahdc1 is a potent regulator of obesity and energy metabolism;American Journal of Physiology-Endocrinology and Metabolism;2023-11-01

3. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature;Molecular Syndromology;2023-09-08

4. Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism;Human Mutation;2022-09-24

5. Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report;World Journal of Clinical Cases;2022-07-26

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