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Primary autosomal recessive microcephaly 1
- ... primary microcephaly National Organization for Rare Disorders (NORD) MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR ...
- ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly ... Roosen K, Vince GH. Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle- ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic Testing ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Hennekam lymphangiectasia-lymphedema syndrome 2 ...
- ... individuals. AAAS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
