A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly

By Johnson K.R.   Sweet H.O.   Donahue L.R.   Ward-Bailey P.   Bronson R.T.   Davisson M.T.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1033-1038

Oxford University Press

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A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype

By Fantini Sebastian   Vaccari Giulia   Brison Nathalie   Debeer Philippe   Tylzanowski Przemko   Zappavigna Vincenzo  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 847-860

Oxford University Press

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An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning †

By Brison Nathalie   Debeer Philippe   Fantini Sebastian   Oley Christine   Zappavigna Vincenzo   Luyten Frank P.   Tylzanowski Przemko  

Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2464-2475

Oxford University Press

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Identification of Two Novel Mutations in the Hydroxymethylbilane Synthase Gene in Three Patients from Two Unrelated Families with Acute Intermittent Porphyria

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Human Heredity, Vol. 48, Iss. 1, 1998-01 ,pp. : 24-29

Karger

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Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

By Innis Jeffrey W.  

Human Molecular Genetics, Vol. 13, Iss. 22, 2004-11 ,pp. : 2841-2851

Oxford University Press

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