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Dokumenttyp:
journal article 
Autor(en):
Lubs, H; Abidi, FE; Echeverri, R; Holloway, L; Meindl, A; Stevenson, RE; Schwartz, CE 
Titel:
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 
Abstract:
BACKGROUND: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984. METHODS: This family was restudied as part of our ongoing study of XLMR, but significant linkage to X chromosome markers could not be found. Extreme short stature and microcephaly as well as other new clinical findings were observed. Mutations in the polyglutamine tract binding protein 1 gene (PQBP1)...    »
 
Zeitschriftentitel:
J Med Genet 
Jahr:
2006 
Band / Volume:
43 
Heft / Issue:
Seitenangaben Beitrag:
e30 
Sprache:
eng 
Print-ISSN:
0022-2593 
TUM Einrichtung:
Frauenklinik und Poliklinik