RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

American Journal of Human Genetics

Volumn 97, Issue 6, 2015, Pages 862-868

  Alazami, Anas M ^a   Shamseldin, Hanan ^a   Manning, Melanie ^b   Hashem, Amal ^c   Caluseiu, Oana ^d   Tabarki, Brahim ^c   Esplin, Edward ^b   Schelley, Susan ^b   Innes, A Micheil ^e   Parboosingh, Jillian S ^e   Lamont, Ryan ^e   Majewski, Jacek ^f   Bernier, Francois P ^e   Alkuraya, Fowzan S ^a,g  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^d UNIVERSITY OF ALBERTA   (Canada)

^e UNIVERSITY OF CALGARY   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

ciliopathy; lissencephaly; primary cilium; primordial dwarfism; rotatin

Indexed keywords

ALLELE; ARTICLE; BRAIN SIZE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DWARFISM; EXOME; EXON; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GROWTH RETARDATION; HUMAN; HYBRIDIZATION; KARYOTYPE; LINKAGE ANALYSIS; MALE; MICROCEPHALY; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIMARY MICROCEPHALY; PRIMORDIAL DWARFISM; PRIORITY JOURNAL; RTTN GENE; SCHOOL CHILD; SHORT STATURE; ABNORMALITIES; AMINO ACID SEQUENCE; ANIMAL; BRAIN; CASE REPORT; CONSANGUINITY; GENE EXPRESSION; GENETICS; HOMOZYGOTE; INTRON; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT;

CARRIER PROTEIN; ROTATIN PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ANIMALS; BRAIN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DWARFISM; EXOME; EXONS; GENE EXPRESSION; HOMOZYGOTE; HUMANS; INTRONS; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 84952638421     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.10.012     Document Type: Article

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