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Article

Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.

Teratology - 1 Mar 2000

Nye J S, Hayes E A, Amendola M, Vaughn D, Charrow J, McLone D G, Speer M C, Nance W E, Pandya A

Abstract excerpt

A large Filipino-American family with progressive matrilineal hearing loss, premature graying, depigmented patches, and digital anomalies was ascertained through a survey of a spina bifida clinic for neural crest disorders. Deafness followed a matrilineal pattern of inheritance and was associated with the A1555G mutation in the 12S rRNA gene (MTRNR1) in affected individuals as well as unaffected maternal...

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Source

Identifiers

PMID: 10661905
DOI: 10.1002/(SICI)1096-9926(200003)61:3<165::AID-TERA3>3.0.CO;2-E

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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