STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Human Genetics

Volumn 134, Issue 1, 2015, Pages 45-51

  Kakar, Naseebullah ^a,b   Ahmad, Jamil ^b   Morris Rosendahl, Deborah J ^c   Altmüller, Janine ^d,e   Friedrich, Katrin ^a,f   Barbi, Gotthold ^a   Nürnberg, Peter ^d,e   Kubisch, Christian ^a,f   Dobyns, William B ^g,h   Borck, Guntram ^a  

^a UNIVERSITY OF ULM   (Germany)

^b BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

^c NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g UNIVERSITY OF WASHINGTON   (United States)

^h Seattle Children's Research Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SCL TAL1 INTERRUPTING LOCUS PROTEIN; UNCLASSIFIED DRUG; SIGNAL PEPTIDE; STIL PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN SIZE; BRAIN STEM; BRAIN THIRD VENTRICLE; CAUDATE NUCLEUS; CEREBELLUM; CHROMOSOME 1P; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LATERAL BRAIN VENTRICLE; MALE; MICROCEPHALIC LOBAR HOLOPROSENCEPHALY; MICROCEPHALY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PAKISTANI; PUTAMEN; RARE DISEASE; WHITE MATTER; CONSANGUINITY; GENETICS; HOLOPROSENCEPHALY; INFANT; MUTATION; PAKISTAN; PRESCHOOL CHILD; YOUNG ADULT;

ERINACEIDAE;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HOLOPROSENCEPHALY; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MICROCEPHALY; MUTATION; PAKISTAN; YOUNG ADULT;

EID: 84920275841     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1487-4     Document Type: Article

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