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Brachydactyly type E
- ... 3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
- ... 3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
- ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
- ... CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD BRACHYOLMIA TYPE 2; BCYM2 NCBI Gene ClinVar Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, ...
- ... Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
- ... Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
- ... like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized by short fingers and toes, ... SYM1A MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 NOGGIN; NOG BRACHYDACTYLY, TYPE B2; BDB2 NCBI Gene ClinVar Brown DJ, Kim ...
- ... KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci ...
- ... dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Pediatr Radiol. 2003 Nov;33(11):786-90. doi: 10.1007/s00247-003-1055-x. Epub 2003 Sep 5. Citation on PubMed Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, ...
- ... toes (syndactyly), digits that are shorter than usual (brachydactyly), or ... one or a few types of oral-facial digital syndrome. These features help ...