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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

Consortium of Swiss Academic Libraries

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Khan, Muzammil A. ; Rupp, Verena M. ; Orpinell, Meritxell ; Hussain, Muhammad S. ; Altmüller, Janine ; Steinmetz, Michel O. ; Enzinger, Christian ; Thiele, Holger ; Höhne, Wolfgang ; Nürnberg, Gudrun ; Baig, Shahid M. ; Ansar, Muhammad ; Nürnberg, Peter ; Vincent, John B. ; Speicher, Michael R. ; Gönczy, Pierre ; Windpassinger, Christian

In: Human Molecular Genetics, 2014, vol. 23, no. 22, p. 5940-5949

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