18781183 |
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
Kahrizi, K,
Ropers, HH,
Tzschach, A,
Garshasbi, M,
Jamali, P,
Kuss, AW,
Kariminejad, R,
Najmabadi, H,
Malekpour, M
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Eur. J. Hum. Genet. |
2009 |
20700148 |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Kuss, AW,
Chen, W,
Ullmann, R,
Kahrizi, K,
Tzschach, A,
Garshasbi, M,
Abedini, SS,
Najmabadi, H,
Kariminejad, R,
Ropers, HH,
Hu, CH,
Ghadami, S
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Eur. J. Hum. Genet. |
2011 |
20637498 |
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder
Swistun, D,
Ali, BR,
De Brouwer, AP,
Morava, E,
Freeze, HH,
Ng, BG,
Dobyns, WB,
Blümel, P,
Babovic-Vuksanovic, D,
Houliston, S,
Adamowicz, M,
Hombauer, H,
Lefeber, DJ,
Swiezewska, E,
Sykut-Cegielska, J,
Guan, Z,
Bielas, SL,
Cantagrel, V,
van Bokhoven, H,
Gleeson, JG,
Raetz, CR,
Wevers, RA,
Al-Gazali, L,
Lehle, L,
Silhavy, JL
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Cell |
2010 |
22240719 |
SRD5A3-CDG: a patient with a novel mutation
Kasapkara, CS,
Hasanoğlu, A,
Tümer, L,
Ezgü, FS,
Matthijs, G,
Race, V,
Jaeken, J
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Eur. J. Paediatr. Neurol. |
2012 |