HIGHLIGHTS
- who: ZNF and collaborators from the University of Bari Aldo Moro, Italy have published the Article: Case report: A heterozygous mutation in leads to growth hormone de ciency, in the Journal: (JOURNAL)
- what: The study reports a new mutation of ZNF462 that differs from those previously reported. The patient identified in this study has a mutation at 9p31.2 on the ZNF462 gene and shows GHD and short stature.
SUMMARY
Weiss-Kruszka syndrome (WSKA) is usually characterized by mild overall developmental delays and common craniofacial abnormalities, according to the OMIM database . . .
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