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Results 1 - 10 of 21 for Brachydactyly type E
  1. 2q37 deletion syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  2. HDAC4 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hdac4 - Genetics
  3. Chromosome 2 
    ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  4. TRPV4 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. ROR2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  6. Robinow syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  7. NOG gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  8. COL2A1 gene 
    ... KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  9. Platyspondylic dysplasia, Torrance type 
    ... Central Okamoto T, Nagaya K, Asai H, Tsuchida E, Nohara F, Hayashi T, Yamashita A, Nishimura G, Azuma H. Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical ...
    https://medlineplus.gov/.../platyspondylic-dysplasia-torrance-type - Genetics
  10. PRKAR1A gene 
    ... F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein ...
    https://medlineplus.gov/genetics/gene/prkar1a - Genetics
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