Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 495-497

  Farooq, Muhammad ^a,b   Baig, Shahid ^b   Tommerup, Niels ^a   Kjaer, Klaus W ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AUTOSOMAL RECESSIVE DISORDER; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOME BREAKAGE; CHROMOSOME CONDENSATION; CRANIOFACIAL SYNOSTOSIS; DNA DAMAGE; GENE; GENE FREQUENCY; GENE MUTATION; HUMAN; LETTER; MENTAL DEFICIENCY; MICROCEPHALIN 1 GENE; MICROCEPHALY; NONHUMAN; PHENOTYPE; PREMATURE CHROMOSOME CONDENSATION; PRIORITY JOURNAL; PROPHASE;

ALLELES; ANIMALS; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOMES; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; HUMANS; MICE; MICROCEPHALY; MICROSATELLITE REPEATS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE;

EID: 75449091571     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33234     Document Type: Letter

References (9)

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