Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting

Annales de Genetique

Volumn 47, Issue 3, 2004, Pages 251-260

  Kotzot, Dieter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Genomic imprinting; Heterodisomy; Isodisomy; Maternal uniparental disomy 14

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIRTH WEIGHT; BODY HEIGHT; BONE DEVELOPMENT; BONE DISEASE; CHROMOSOME 14; CLEFT PALATE; CLINICAL ARTICLE; CONTROLLED STUDY; DELIVERY; FACE DYSMORPHIA; FEMALE; FETUS; FOOT DISEASE; GENETIC TRAIT; GENOME IMPRINTING; HAND DISEASE; HOMOZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; MALE; MOSAICISM; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; ONSET AGE; PHENOTYPE; POSTNATAL GROWTH; PREMATURITY; PUBERTY; TRISOMY; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 14; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; GENES, RECESSIVE; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; MODELS, GENETIC; MOSAICISM; MUSCLE HYPOTONIA; PHENOTYPE; PLACENTA; PUBERTY, PRECOCIOUS; TRISOMY; UNIPARENTAL DISOMY;

EID: 4344701968     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.03.006     Document Type: Article

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