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Results 1 - 10 of 58 for Williams syndrome
  1. GTF2I gene 
    ... 7 that is missing (deleted) in people with Williams syndrome, which is a developmental disorder characterized by mild ... As a result of the deletion, people with Williams syndrome are missing one copy of the GTF2I gene ...
    https://medlineplus.gov/genetics/gene/gtf2i - Genetics
  2. LIMK1 gene 
    ... chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild ... As a result of the deletion, people with Williams syndrome are missing one copy of the LIMK1 gene ...
    https://medlineplus.gov/genetics/gene/limk1 - Genetics
  3. GTF2IRD1 gene 
    ... chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild ... As a result of the deletion, people with Williams syndrome are missing one copy of the GTF2IRD1 gene ...
    https://medlineplus.gov/genetics/gene/gtf2ird1 - Genetics
  4. CLIP2 gene 
    ... chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with ... contribute to some of the characteristic features of Williams syndrome, including the unique behavioral traits and other symptoms ...
    https://medlineplus.gov/genetics/gene/clip2 - Genetics
  5. ELN gene 
    ... chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder that is characterized ... As a result of the deletion, people with Williams syndrome are missing one copy of the ELN gene ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  6. NCF1 gene 
    ... 7 that is often deleted in people with Williams syndrome. Williams syndrome is a developmental disorder that affects many parts ... of developing high blood pressure (hypertension). People with Williams syndrome whose NCF1 gene is not deleted have a ...
    https://medlineplus.gov/genetics/gene/ncf1 - Genetics
  7. NOD2 gene 
    ... Blau E, Inohara N, Nunez G, Tromp G, Williams CJ. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  8. ALMS1 gene 
    ... on PubMed Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M. Alstrom Syndrome. 2003 Feb 7 [updated 2019 Jun 13]. In: ...
    https://medlineplus.gov/genetics/gene/alms1 - Genetics
  9. ALDH3A2 gene 
    ... WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar ...
    https://medlineplus.gov/genetics/gene/aldh3a2 - Genetics
  10. SLC52A3 gene 
    ... Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
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