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Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
Eur J Med Genet. 2009 Jul-Aug;52(4):180-4. doi: 10.1016/j.ejmg.2009.03.013. Epub 2009 Mar 28.
Eur J Med Genet. 2009.
PMID: 19332161
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
Imessaoudene B, Bonnefont JP, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J.
Imessaoudene B, et al.
J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171.
J Med Genet. 2001.
PMID: 11238684
Free PMC article.
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