Litcius/Paper detail

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

Jean‐Marc Biard, Stéphanie Payrat, Philippe Clapuyt, Catherine Barréa, Valérie Benoît, Paméla Baldin, Pierre Bernard, Bénédicte Van Grambezen, Yves Sznajer

2021European Journal of Medical Genetics19 citationsDOIOpen Access PDF

Topics & Concepts

CHARGE syndromeChoanal atresiaMedicinePolyhydramniosPrenatal diagnosisHoloprosencephalyExome sequencingCraniofacial abnormalityAtresiaFetusPediatricsRadiologyObstetricsAnatomyPregnancyGeneticsCraniofacialMutationBiologyGenePsychiatryCongenital Ear and Nasal AnomaliesTracheal and airway disordersHead and Neck Surgical Oncology