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Results 1 - 3 of 3 for PAFAH1B1
  1. Subcortical band heterotopia 
    ... individuals are female. Mutations in the DCX or PAFAH1B1 gene cause subcortical band heterotopia. Both genes provide ... or alter the protein's structure or stability. PAFAH1B1 gene mutations are less common. Mutations in this ...
    https://medlineplus.gov/.../condition/subcortical-band-heterotopia - Genetics
  2. Miller-Dieker syndrome 
    ... varies among affected individuals, it typically includes the PAFAH1B1 and YWHAE genes.Researchers are working to identify ... They have determined that the loss of the PAFAH1B1 gene is responsible for the lissencephaly seen in ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  3. Isolated lissencephaly sequence 
    ... 1 in 100,000 newborns. Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ... microtubules. The proteins produced from the DCX and PAFAH1B1 genes promote neuronal migration by interacting with microtubules. ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics