Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1 -related disorders literature
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference21 articles.
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2. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome;Alazami;Am. J. Hum. Genet.,2009
3. An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations;Al-Gazali;Clin. Dysmorphol.,2002
4. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice;Beck;Hum. Mol. Genet.,2013
5. Micro-ablepharon of the upper eyelids and vaginal atresia;Fryns;Genet. Couns.,2001
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