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Article

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

American journal of medical genetics. Part A - 1 Sept 2015

Bayram Yavuz, Aydin Hatip, Gambin Tomasz, Akdemir Zeynep Coban, Atik Mehmed M, Karaca Ender, Karaman Ali, Pehlivan Davut, Jhangiani Shalini N, Gibbs Richard A, Lupski James R

Abstract excerpt

Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip,...

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PMID: 25846457
DOI: 10.1002/ajmg.a.37092
PMCID: PMC4545386

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