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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2006
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| Assuntos: | |
| Acesso em linha: | 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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