Narrowing critical regions and determining penetrance for selected 18q- phenotypes

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1421-1430

  Cody, Jannine D ^a   Heard, Patricia L ^a   Crandall, AnaLisa C ^a   Carter, Erika M ^a   Li, John ^a   Jean Hardies, L ^a   Lancaster, Jack ^a   Perry, Brian ^a   Stratton, Robert F ^a   Sebold, Courtney ^a   Schaub, Rebecca L ^a   Soileau, Bridgette ^a   Hill, Annice ^a   Hasi, Minire ^a   Fox, Peter T ^a   Hale, Daniel E ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

Aural atresia; Chromosome 18; Critical regions; Dysmyelination; Genotype phenotype correlation; Growth hormone deficiency; Kidney malformation

Indexed keywords

GROWTH HORMONE;

ARTICLE; ATRESIA; AURAL ATRESIA; BLOOD SAMPLING; CHROMOSOME 18Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL ASSESSMENT; DEMYELINATING DISEASE; DNA DETERMINATION; DNA ISOLATION; GENE DUPLICATION; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HORMONE RESPONSE; HUMAN; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MYELIN DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; EAR DISEASES; EAR, MIDDLE; GENOTYPE; GROWTH DISORDERS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; KIDNEY; KIDNEY DISEASES; LINKAGE (GENETICS); PENETRANCE; PHENOTYPE;

EID: 67649891220     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32899     Document Type: Article

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