Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly-Reference-Cited by-同舟云学术

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly

Published:2020-10-07 Issue:2 Volume:30 Page:83-88
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Dawson Angelika J.,Hovanes Karine,Liu Jing,Marles Sandra,Greenberg Cheryl,Mhanni Aziz,Chudley Albert,Frosk Patrick,Sahoo Trilochan,Schanze Denny,Zenker Martin

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference17 articles.

1. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.;Alazami;Am J Hum Genet,2009

2. FBN1 contributing to familial congenital diaphragmatic hernia.;Beck;Am J Med Genet A,2015

3. Fraser syndrome: review of the literature illustrated by a historical adult case.;Bouaoud;Int J Oral Maxillofac Surgery,2020

4. Novel FREM1 mutations in a patient with MOTA syndrome: clinical findings, mutation update and review of FREM1-related disorders literature.;Chacon-Camacho;Eur J Med Genet,2017

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3. Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes;Clinical Dysmorphology;2022-11-10