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Dokumenttyp:
journal article 
Autor(en):
Martínez-Garay, I; Tomás, M; Oltra, S; Ramser, J; Moltó, MD; Prieto, F; Meindl, A; Kutsche, K; Martínez, F 
Titel:
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 
Abstract:
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with...    »
 
Zeitschriftentitel:
Eur J Hum Genet 
Jahr:
2007 
Band / Volume:
15 
Heft / Issue:
Seitenangaben Beitrag:
29-34 
Sprache:
eng 
Print-ISSN:
1018-4813 
TUM Einrichtung:
Frauenklinik und Poliklinik