Autosomal recessive primary microcephaly (MCPH): Clinical manifestations, genetic heterogeneity and mutation continuum

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Mahmood, Saqib ^a   Ahmad, Wasim ^b   Hassan, Muhammad J ^a  

^a UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Heterogeneity; MCPH; Mutations; Pakistan

Indexed keywords

ABNORMAL SPINDLE LIKE MICROCEPHALY ASSOCIATED PROTEIN; CELL CYCLE PROTEIN; CENTROMERE ASSOCIATED PROTEIN J; CEP152 PROTEIN; CYCLIN DEPENDANT KINASE 5 REGULATORY ASSOCIATED PROTEIN 2; MICROCEPHALIN; STIL PROTEIN; UNCLASSIFIED DRUG; WD REPEAT DOMAIN 62 PROTEIN;

AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY; BRAIN SIZE; EPILEPSY; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCUS; GENE MUTATION; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INCIDENCE; INTELLIGENCE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; NONHUMAN; PAKISTAN; PHENOTYPIC VARIATION; POPULATION GENETICS; RARE DISEASE; REVIEW; SEIZURE; GENE EXPRESSION REGULATION; GENETICS; MUTATION; PATHOLOGY;

GENE EXPRESSION REGULATION; HUMANS; MICROCEPHALY; MUTATION; PAKISTAN; RARE DISEASES;

EID: 79958276783     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-39     Document Type: Review

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