Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2882-2885

  Scala, Iris ^a   Titomanlio, Luigi ^b,c   Del Giudice, Ennio ^a   Passemard, Sandrine ^b,c   Figliuolo, Chiara ^a   Annunziata, Patrizia ^a,d   Granese, Barbara ^a   Scarpato, Elena ^a   Verloes, Alain ^b   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Clinique de Genetique Medicale   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CHILD; COHORT ANALYSIS; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MICROCEPHALIN GENE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; COHORT STUDIES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS;

EID: 78049253633     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33672     Document Type: Letter

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