Síndrome de Abruzzo-Erickson

Also known as Cleft palate-coloboma-deafness syndrome, ABRUZZO-ERICKSON SYNDROME; ABERS, Charge-Like Syndrome, X-Linked, ABERS, CHARGE-like syndrome, CHARGE like syndrome X-linked, ABRUZZO-ERICKSON SYNDROME, Abruzzo-Erickson syndrome

human disease

Research

5 papers

A suspected case of Abruzzo-Erickson syndrome.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2004
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.Clinical genetics · 2013
Guilty as CHARGED: p53's expanding role in disease.Cell cycle (Georgetown, Tex.) · 2014
Unilateral ectopic parotid gland in CHARGE syndrome.Pediatric radiology · 2013
Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.American journal of medical genetics. Part A · 2026

via PubMed

Wikidata facts

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Article · Português

A Síndrome de Abruzzo-Erickson é uma doença genética extremamente rara inicialmente descrita por Abruzzo e Erickson em 1977. Caracteriza-se pela presença de fenda palatina, coloboma, hipospádia, surdez, baixa estatura e sinostose radial. O diagnóstico diferencial deve ser feito com a síndrome CHARGE (coloboma, cardiopatia, atresia coanal, retardo de crescimento e mental, hipogonadismo e malformação auricular com deficiência auditiva).

Abstract from DBpedia / Wikipedia · CC BY-SA