Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: Case report and review of the literature

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Brooks, Brian P ^a,b   Meck, Jeanne M ^c,d   Haddad, Bassem R ^c,d   Bendavid, Claude ^b,c,e   Blain, Delphine ^a   Toretsky, Jeffrey A ^d  

^a NATIONAL EYE INSTITUTE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c Department of Obstetrics/Gynecology and Oncology ^*  (United States)

^d GEORGETOWN UNIVERSITY HOSPITAL   (United States)

^e UNIVERSITÉ DE RENNES 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT;

ANUS ATRESIA; BACTERIAL ARTIFICIAL CHROMOSOME; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 16; COLOSTOMY; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUNCTION; GENE PROBE; HUMAN; HYPOPIGMENTATION; MALE; MEDICAL LITERATURE; MICROCEPHALY; OPTIC NERVE HYPOPLASIA; PARTIAL MONOSOMY; PHENOTYPE; RETINA MACULA LUTEA; REVIEW; SCHOOL CHILD; SEIZURE; SLEEP APNEA SYNDROME; TONSIL DISEASE;

BACTERIA (MICROORGANISMS);

EID: 33644539520     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-2     Document Type: Review

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