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Results 1 - 10 of 21 for "malformation," congenital
  1. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  2. GNAQ gene 
    ... alpha Tests of GNAQ PubMed MELANOMA, UVEAL CAPILLARY MALFORMATIONS, CONGENITAL; CMC GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  3. PAX6 gene 
    ... available. Citation on PubMed Hanson IM. PAX6 and congenital eye malformations. Pediatr Res. 2003 Dec;54(6):791-6. ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  4. PIK3CA gene 
    ... include hemimegalencephaly; fibroadipose hyperplasia; and a condition called congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal abnormalities (CLOVES) ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  5. FOXN1 gene 
    ... In addition, a shortage of this protein causes malformations of the fingernails and toenails (nail dystrophy).Researchers have described abnormalities of the central nervous system in at least two cases of T-cell immunodeficiency, congenital alopecia, and nail dystrophy. However, it is not ...
    https://medlineplus.gov/genetics/gene/foxn1 - Genetics
  6. GJA1 gene 
    ... the GJA1 gene may also contribute to heart malformations, although the role of such a genetic change is unclear. ... PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; PPKCA1 GAP JUNCTION PROTEIN, ALPHA-1; ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  7. FREM1 gene 
    ... This Health Condition MedlinePlus Genetics provides ... anorectal malformations syndrome, sometimes called BNAR. These mutations change single ...
    https://medlineplus.gov/genetics/gene/frem1 - Genetics
  8. TUBB2B gene 
    ... been found to cause a rare form of congenital fibrosis of the extraocular ... a brain malformation called polymicrogyria, in which the surface of the ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  9. TUBB3 gene 
    ... condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this ... progressive muscle stiffness (spasticity) in affected individuals. Brain malformations in CDCBM1 result from abnormal development of the ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  10. ATN1 gene 
    ... gene can cause a very rare condition called congenital hypotonia, epilepsy, ... brain malformations. The ATN1 gene variants that cause CHEDDA syndrome ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
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