Establishing a reference group for distal 18q-: Clinical description and molecular basis

Human Genetics

Volumn 133, Issue 2, 2014, Pages 199-209

  Cody, Jannine D ^a,b   Hasi, Minire ^a   Soileau, Bridgette ^a   Heard, Patricia ^a   Carter, Erika ^a   Sebold, Courtney ^a   O'Donnell, Louise ^a   Perry, Brian ^c   Stratton, Robert F ^a,d   Hale, Daniel E ^a  

^a University of Texas Health Science Center   (United States)

^b Chromosome 18 Registry and Research Society   (United States)

^c Ear Medical Group   (United States)

^d DRISCOLL CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATP9B GENE; ATRESIA; CHILD; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DELETION 18Q; CLINICAL ARTICLE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; EAR CANAL ATRESIA; FEMALE; FOOT MALFORMATION; GENE; GENE DOSAGE; GENOTYPE; GROWTH HORMONE DEFICIENCY; HEARING IMPAIRMENT; HEMIZYGOSITY; HUMAN; HYPOSPADIAS; MALE; MUSCLE HYPOTONIA; NETO1 GENE; NFATC GENE; PHENOTYPE; PRIORITY JOURNAL; TNX3 GENE; TSHZ1 GENE; ZNF407 GENE;

ADAPTATION, PSYCHOLOGICAL; ADOLESCENT; ADULT; ASPERGER SYNDROME; AUTISTIC DISORDER; CADHERINS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; COHORT STUDIES; FEMALE; GENE DOSAGE; GENOTYPE; HUMANS; KARYOTYPING; LONGITUDINAL STUDIES; MALE; PHENOTYPE; SERPINS; TEXAS; YOUNG ADULT;

EID: 84893184619     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1364-6     Document Type: Article

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