Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3

American Journal of Medical Genetics

Volumn 128 A, Issue 1, 2004, Pages 85-92

  Horn, Denise ^a   Tönnies, Holger ^a   Neitzel, Heidemarie ^a   Wahl, Dagmar ^b   Hinkel, Georg Klaus ^c   Von Moers, Arpad ^a   Bartsch, Oliver ^c  

^a HUMBOLDT UNIVERSITY   (Germany)

^b Genetic Practice   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Cryptic 7q36 deletion; Currarino syndrome; Holoprosencephaly; Microsign; Monosomy 7q36

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 7P; CHROMOSOME 7Q; CHROMOSOME 9P; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 7; CHROMOSOME TRANSLOCATION 9; CLINICAL FEATURE; CRYPTIC 7Q36 DELETION; CURRARINO SYNDROME; CYTOGENETICS; EYE MALFORMATION; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HLXB9 GENE; HOLOPROSENCEPHALY; HUMAN; MALE; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MICROCEPHALY; MICROSIGN; MONOSOMY 7; MONOSOMY 7Q36; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PTOSIS; SACRUM AGENESIS; SHORT STATURE; SONIC HEDGEHOG GENE; SUBMICROSCOPIC DELETION; SYMPTOMATOLOGY; TETHERED CORD SYNDROME;

ERINACEIDAE;

EID: 3042721500     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30031     Document Type: Article

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