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Human Molecular Genetics, Vol. 6, Iss. 7, 1997-07 ,pp. : 1163-1167

Oxford University Press

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

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Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 171-178

Springer Publishing Company

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A new sequence motif linking lissencephaly, Treacher Collins and oral–facial–digital type 1 syndromes, microtubule dynamics and cell migration

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Human Molecular Genetics, Vol. 10, Iss. 24, 2001-11 ,pp. : 2813-2820

Oxford University Press

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

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John Wiley & Sons Inc

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FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish

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Molecular Syndromology, Vol. 1, Iss. 5, 2011-05 ,pp. : 255-261

Karger

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