A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the hutterite population

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1349-1356

  Boycott, Kym M ^a   Beaulieu, Chandree ^b   Puffenberger, Erik G ^c,d   McLeod, D Ross ^b   Parboosingh, Jillian S ^b   Innes, A Micheil ^b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c CLINIC FOR SPECIAL CHILDREN   (United States)

^d FRANKLIN AND MARSHALL COLLEGE   (United States)

Author keywords

Developmental delay; Dysmorphism; Hutterite; Identity by descent mapping

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 16P; CONSANGUINEOUS MARRIAGE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; GENE LOCUS; GENE MAPPING; GENOTYPE; HAPLOTYPE; HEAD CIRCUMFERENCE; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HORSESHOE KIDNEY; HUMAN; KARYOTYPE; KIDNEY AGENESIS; MALFORMATION SYNDROME; MICROSATELLITE MARKER; NORTH AMERICA; NOSE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; URINARY TRACT INFECTION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; GENETIC MARKERS; HUMANS; PEDIGREE; POPULATION; SYNDROME; YOUNG ADULT;

COLUMELLA;

EID: 77952766711     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33379     Document Type: Article

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