The Oral-Facial-Digital Syndrome Type 1 (OFD1), a Cause of Polycystic Kidney Disease and Associated Malformations, Maps to Xp22.2-Xp22.3

By Feather Sally A.  

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

Oxford University Press

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Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

By Ferrante Maria I.   Romio Leila   Castro Silvia   Collins John E.   Goulding David A.   Stemple Derek L.   Woolf Adrian S.   Wilson Stephen W.  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 289-303

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

By Budny Bartlomiej   Chen Wei   Omran Heymut   Fliegauf Manfred   Tzschach Andreas   Wisniewska Marzena   Jensen Lars   Raynaud Martine   Shoichet Sarah   Badura Magda   Lenzner Steffen   Latos-Bielenska Anna   Ropers Hans-Hilger  

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

Springer Publishing Company

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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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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2132-2137

John Wiley & Sons Inc

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Point Mutations and an Intragenic Deletion in LIS1 , the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

By Lo Nigro Cristiana   Chong Samuel S.   Smith Ann C. M.   Dobyns William B.   Carrozzo Romeo   Ledbetter David H.  

Human Molecular Genetics, Vol. 6, Iss. 2, 1997-01 ,pp. : 157-164

Oxford University Press

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