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Golabi‐Ito‐Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

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...

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מידע ביבליוגרפי
Main Authors: Lubs, H, Abidi, F E, Echeverri, R, Holloway, L, Meindl, A, Stevenson, R E, Schwartz, C E
פורמט: Artigo
שפה:Inglês
יצא לאור: BMJ Group 2006
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564547/
https://ncbi.nlm.nih.gov/pubmed/16740914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.037556
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