{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:52Z","timestamp":1789447432621,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T00:00:00Z","timestamp":1416182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Albright hereditary osteodystrophy (AHO)\u2010like syndrome is also known as brachydactyly\u2010mental 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 <jats:italic>HDAC4<\/jats:italic> mutation are defined as having an AHO\u2010like phenotype with normal stimulatory G (Gs) function. <jats:italic>HDAC4<\/jats:italic> is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, <jats:italic>HDAC4<\/jats:italic> and <jats:italic>TWIST2<\/jats:italic>. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the <jats:italic>HDAC4<\/jats:italic> critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36428","type":"journal-article","created":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T15:45:29Z","timestamp":1416239129000},"page":"185-189","source":"Crossref","is-referenced-by-count":16,"title":["The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature"],"prefix":"10.1002","volume":"167","author":[{"given":"Nolwenn","family":"Jean\u2010Mar\u00e7ais","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique H\u00f4pital Universitaire de la C\u00f4te de Nacre Caen France"},{"name":"Service de P\u00e9diatrie H\u00f4pital Universitaire 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