A novel mutation of desert hedgehog in a patient with 46, XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

American Journal of Human Genetics

Volumn 67, Issue 5, 2000, Pages 1302-1305

  Umehara, Fujio ^a   Tate, Genshu ^b   Itoh, Kayoko ^a   Yamaguchi, Naoki ^a   Douchi, Tsutomu ^a   Mitsuya, Toshiyuki ^b   Osame, Mitsuhiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b SHOWA UNIVERSITY FUJIGAOKA HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CODON; ENDONEURIUM; EXON; GONADAL DYSGENESIS; HUMAN; MALE; MISSENSE MUTATION; MYELINATED NERVE; NUCLEOTIDE SEQUENCE; POLYNEUROPATHY; PRIORITY JOURNAL; RNA TRANSLATION; SURAL NERVE;

ERINACEIDAE;

EID: 0033754159     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9297(07)62958-9     Document Type: Article

References (12)

1. Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly
2. Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo
3. Sertoli cell signaling by desert hedgehog regulates the male germline
4. The world according to hedgehog
5. Transducing hedgehog: The story so far
6. A human XY female with a frameshift mutation in the candidate testis determining gene SRY
7. Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histological findings in 16 patients
8. Schwann cell-derived desert hedgehog controls the development of peripheral nerve sheath
9. Mutations in the human sonic hedgehog gene cause holoprosencephaly
10. Expression of sonic hedgehog and its receptor patched/smoothened in human cancer cell lines and embryonic organs
11. Assignment of desert hedgehog to human chromosome bands 12q12→q13.1 by in situ hybridization
12. Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis