Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: A new syndrome?

Description of a large kindred with auto

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)

✍ Stratakis, Constantine A.; Lin, Jing Ping; Rennert, Owen M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal