Ophthalmologic abnormalities in a de novo terminal 6q deletion-Reference-Cited by-同舟云学术

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Ophthalmologic abnormalities in a de novo terminal 6q deletion

Published:2010-02-08 Issue:1 Volume:31 Page:1-11
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Abu-Amero Khaled K.,Hellani Ali,Salih Mustafa A.,Hussain Abdulkarim Al,Obailan Majed al,Zidan Ghassan,Alorainy Ibrahim A.,Bosley Thomas M.

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810903312535

Reference15 articles.

1. Terminal Deletion of Chromosome 6q

2. Isolated 6q terminal deletions: An emerging new syndrome

3. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations

4. 6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

5. Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3

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1. Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders;American Journal of Speech-Language Pathology;2023-07-10

2. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1;Orphanet Journal of Rare Diseases;2023-03-19

3. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role forDLL1;2022-11-14

4. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series;Prenatal Diagnosis;2021-12-11

5. 6q25.1-q25.3 Microdeletion in a Chinese Girl;Journal of Clinical Research in Pediatric Endocrinology;2021-02-26

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