Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization

Carpenter syndrome is an autosomal-recessive multiple-congenital- malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital...

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Prif Awduron:	Twigg, S, Lloyd, D, Jenkins, D, Elçioglu, N, Cooper, C, Al-Sannaa, N, Annagür, A, Gillessen-Kaesbach, G, Hüning, I, Knight, S, Goodship, J, Keavney, B, Beales, P, Gileadi, O, McGowan, S, Wilkie, A
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2012

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. gan Twigg, SR, Lloyd, D, Jenkins, D, Elçioglu, N, Cooper, C, Al-Sannaa, N, Annagür, A, Gillessen-Kaesbach, G, Hüning, I, Knight, S, Goodship, J, Keavney, B, Beales, P, Gileadi, O, McGowan, S, Wilkie, A

Cyhoeddwyd 2012

Journal article

Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization

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