A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy
- 30 November 2000
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 67 (5), 1302-1305
- https://doi.org/10.1016/s0002-9297(07)62958-9
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Assignment1 of Desert Hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridizationCytogenetic and Genome Research, 2000
- Transducing Hedgehog: the story so farThe EMBO Journal, 1998
- The world according to bedgebogTrends in Genetics, 1997
- Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephalyNature Genetics, 1996
- Mutations in the human Sonic Hedgehog gene cause holoprosencephalyNature Genetics, 1996
- Sertoli cell signaling by Desert hedgehog regulates the male germlineCurrent Biology, 1996
- HedgehogandBmpGenes Are Coexpressed at Many Diverse Sites of Cell–Cell Interaction in the Mouse EmbryoDevelopmental Biology, 1995
- Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patientsAmerican Journal of Medical Genetics, 1993
- A human XY female with a frame shift mutation in the candidate testis-determining gene SRYNature, 1990