טוען...
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...
שמור ב:
| Main Authors: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BMJ Group
2006
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| 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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