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Results 1 - 10 of 35 for Marshall syndrome
  1. Stickler syndrome 
    ... individuals.A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. Weaver syndrome 
    Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  3. COL11A1 gene 
    ... Mutations in the COL11A1 gene can also cause Marshall syndrome, a condition that is very similar to Stickler syndrome. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  4. EZH2 gene 
    ... gene mutations have been identified in people with Weaver syndrome, which involves tall stature, a variable degree of ... Most of the EZH2 gene mutations associated with Weaver syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ezh2 - Genetics
  5. 19p13.13 deletion syndrome 
    ... decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010 Aug 13;87( ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  6. Alström syndrome 
    ... on PubMed or Free article on PubMed Central Marshall JD, Beck S, Maffei P, Naggert JK. Alstrom syndrome. Eur J Hum Genet. 2007 Dec;15(12): ... 1001/archinte.165.6.675. Citation on PubMed Marshall JD, Maffei ... utility gene card for: Alstrom Syndrome - update 2013. Eur J Hum Genet. 2013 Nov; ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  7. 22q13.3 deletion syndrome 
    ... Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  8. SHANK3 gene 
    ... Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 ...
    https://medlineplus.gov/genetics/gene/shank3 - Genetics
  9. Simpson-Golabi-Behmel syndrome 
    ... Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A. 2016 ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  10. ALMS1 gene 
    ... ASSOCIATED PROTEIN; ALMS1 NCBI Gene ClinVar ... ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet. 2002 May;31(1):74-8. ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
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