The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review

Review

Abstract: Background: The diagnostic process for uncommon disorders with similar manifestations is complicated

Palabras claves:

ATRX syndrome, Rare Diseases, Whole exome sequencing

Autores:

Arias B., Hosomichi K., Samantha S. Sáenz, Vanessa Romero

Fuentes:

scopus