On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 148, Issue 4, 2008, Pages 257-269

  Zollino, Marcella ^a,e   Murdolo, Marina ^a   Marangi, Giuseppe ^a   Pecile, Vanna ^b   Galasso, Cinzia ^c   Mazzanti, Laura ^d   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

4p deletion; WHS; Wolf Hirschhorn syndrome

Indexed keywords

CHROMOSOME 4P; CHROMOSOME 8P; CHROMOSOME DELETION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; FACE MALFORMATION; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; GROWTH RETARDATION; HUMAN; MAJOR CLINICAL STUDY; MEDICAL LITERATURE; MENTAL DEFICIENCY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SEIZURE; WOLF HIRSCHHORN SYNDROME;

CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; CRANIOFACIAL ABNORMALITIES; FEMALE; GENE REARRANGEMENT; GENOTYPE; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE; PROGNOSIS; TRANSLOCATION, GENETIC; WOLF-HIRSCHHORN SYNDROME;

EID: 55949114508     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30190     Document Type: Review

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