Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

This report confirms previous reports of antenatal ventriculomegaly in PTBHS patients and documents a so far unreported occurrence of esophageal atresia in PTBHS. We additionally gathered phenotype and genotype descriptions of published cases in an effort to better define the spectrum of PTBHS.PMID:36592689 | DOI:10.1016/j.ejmg.2022.104692

Source: European Journal of Medical Genetics - January 2, 2023 Category: Genetics & Stem Cells Authors: Chlo é Geerts Yves Sznajer Erika D'haenens Dana Dumitriu Marie-C écile Nassogne Source Type: research