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Article

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.

American journal of medical genetics. Part A - 1 Aug 2022

Abdalla Ebtesam, Alawi Malik, Meinecke Peter, Kutsche Kerstin, Harms Frederike L

Abstract excerpt

The cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by craniofacial anomalies including bilateral cleft lip and palate, cardiac, skeletal, and neurodevelopmental features and additional variable manifestations. Whole-exome sequencing revealed homozygous loss-of-function variants in CCDC32 (alternative name: C15orf57) in both previously described patients. ccdc32 deletion in zebrafish suggests a...

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Cleft Lip
Cleft Palate
Congenital heart defects research
Craniofacial Abnormalities
Intellectual Disability

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PMID: 35451546
DOI: 10.1002/ajmg.a.62762

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