Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder-Reference-Cited by-同舟云学术

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

Published:2022-03-21 Issue:7 Volume:188 Page:1990-1996
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Michelson Marina¹²³^ORCID,Lidzbarsky Gabriel⁴,Nishri Daniella⁵,Israel‐Elgali Ifat³⁶,Berger Rachel²,Gafner Michal³^ORCID,Shomron Noam³⁶,Lev Dorit¹²³^ORCID,Goldberg Yael²³⁴

Affiliation:

1. Institute of Medical Genetics Wolfson Medical Center Holon Israel

2. The Genetic Institute of Maccabi Health Medicinal Organization Tel‐Aviv Israel

3. Sackler School of Medicine Tel‐Aviv University Tel‐Aviv Israel

4. Raphael Recanati Genetic Institute Rabin Medical Center–Beilinson Hospital Petach Tikva Israel

5. Child Developmental Center of Maccabi Health Medicinal Organization Tel‐Aviv Israel

6. Sagol School of Neuroscience Tel‐Aviv University Tel‐Aviv Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62730

Reference34 articles.

1. Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

2. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

3. High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

4. Invited Review: Long non‐coding RNA s: important regulators in the development, function and disorders of the central nervous system

5. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations

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3. Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype;Molecular Cytogenetics;2022-11-03

4. Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema–distichiasis syndrome: relationship to phenotype;2022-08-29