A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report

• Main Authors: Alexandra Jimenez-Armijo (Author), Khadja Oumensour (Author), Bouchra Bousfiha (Author), Tristan Rey (Author), Virginie Laugel-Haushalter (Author), Agnès Bloch-Zupan (Author), Samira El Arabi (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. The patient presented with repeated dental abscesses and severe early childhood caries. She had no...