A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy-Reference-Cited by-同舟云学术

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy

Published:2020-11-06 Issue:45 Volume:99 Page:e23033
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Jiang Maoying,Wang Shanlin,Li Fei,Geng Juan,Ji Yiting,Li Ke,Jiang Xiaodong

Funder

Shanghai Jiao Tong University School of Medicine

Medical Health Science and Technology Project of Zhejiang Provincial Health Commission

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

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4. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities;Kaminsky;Genet Med,2011

5. Phenotypic information in genomic variant databases enhances clinical care and research: the international standards for cytogenomic arrays consortium experience;Riggs;Hum Mutat,2012

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