SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
Chudasama KK, Winnay J, Johansson S, Claudi T, König R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njølstad PR.
Chudasama KK, et al. Among authors: sagen jv.
Am J Hum Genet. 2013 Jul 11;93(1):150-7. doi: 10.1016/j.ajhg.2013.05.023. Epub 2013 Jun 27.
Am J Hum Genet. 2013.
PMID: 23810379
Free PMC article.