Orofaciodigital syndrome type III in two sibs.

A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert&#...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Smith, R A, Gardner-Medwin, D
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1993
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016572/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8230165/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.870
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