Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1476-1481

  Vilain, Catheline ^a   Mortier, Geert ^b   Van Vliet, Guy ^c   Dubourg, Christèle ^d   Heinrichs, Claudine ^e   De Silva, Deephti ^f   Verloes, Alain ^g   Baumann, Clarisse ^g  

^a ERASME HOSPITAL   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF MONTREAL   (Canada)

^d RENNES UNIVERSITY HOSPITAL   (France)

^e HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^f UNIVERSITY OF KELANIYA   (Sri Lanka)

^g HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Ectrodactyly; GLI2; Holoprosencephaly; Hypertelorism; Vermian hypoplasia

Indexed keywords

SODIUM; TESTOSTERONE; TESTOSTERONE ENANTATE; TESTOSTERONE ESTER; VASOPRESSIN;

ADULT; AGENESIS; ANOSMIA; ARTICLE; AUTOPSY; BIRTH WEIGHT; BONE MALFORMATION; BONE RADIOGRAPHY; CAMPTODACTYLY; CEREBELLUM VERMIS; CHILD; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; CYTOGENETICS; DEHYDRATION; DIABETES INSIPIDUS; DIFFERENTIAL DIAGNOSIS; EAR MALFORMATION; ECHOGRAPHY; ECTRODACTYLY; EEC SYNDROME; FETUS; GESTATIONAL AGE; GONADOTROPIN DEFICIENCY; HAND MALFORMATION; HARTSFIELD SYNDROME; HEPATITIS NON A NON B; HETEROTOPIA; HOLOPROSENCEPHALY; HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; HYPERNATREMIA; HYPERTELORISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; INTELLIGENCE QUOTIENT; INTELLIGENCE TEST; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROPENIS; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ORCHIDOPEXY; POLYURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SCOLIOSIS; SODIUM BLOOD LEVEL; SPASTIC PARAPLEGIA; TELECANTHUS; URINE OSMOLALITY; X CHROMOSOME LINKAGE;

ADULT; CHILD; CLEFT LIP; FINGERS; HOLOPROSENCEPHALY; HUMANS; INFANT, NEWBORN; MALE; SYNDACTYLY; SYNDROME; TOES; YOUNG ADULT;

EID: 67649882199     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32678     Document Type: Article

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