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- W2092903339 abstract "Albright hereditary osteodystrophy (AHO)‐like syndrome is also known as brachydactyly‐mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO‐like phenotype with normal stimulatory G (Gs) function. HDAC4 is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, HDAC4 and TWIST2 . Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. © 2014 Wiley Periodicals, Inc." @default.
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- W2092903339 date "2014-11-17" @default.
- W2092903339 modified "2023-10-09" @default.
- W2092903339 title "The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature" @default.
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- W2092903339 doi "https://doi.org/10.1002/ajmg.a.36428" @default.
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