Gene: [07q36/SHH] sonic hedgehog (Drosophila) homolog; holoprosencephaly 3 (MIM:142945); [HLP3 HPE3 ]
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MUT |
Belloni et al. (Belloni-1996) identified SHH as a candidate gene for the autosomal dominant holoprosencephaly type 3 (HPE3) by detailed characterization of HPE3 patient chromosome rearrangements and contigs of the HPE3 region. The authors proposed that the chromosomal rearrangements remove distal cis-acting regulatory elements or exert long-term position effects causing aberrant expression of the gene. Roessler-1996 defined the intron-exon boundaries of SHH by direct sequencing and then designed primers for exon amplification and SSCP analysis in 30 families with HPE3. The authors then identified mutations in SHH which caused HPE3 in these families." |
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FAG |
See GEM:02q3/IHH[:FAG]. |
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REF |
MUT,ABR,TRC,MCH "Belloni E &: Nature Genet, 14, N3, 353-356, 1996 PAT,LOC "Hatziioannou AG &: Am J Med Genet, 40, 201-205, 1991 PAT,LOC "Kleczkowska A &: Ann Genet, 33, 111-112, 1990 CLO,SEQ,EXP,LOC "Marigo V &: Genomics, 28, N1, 44-51, 1995 FUN,REV "Olson EN, Srivastava D: Science, 272, N5262, 671-676, 1996 FUN "Riddle RD &: Cell, 75, N7, 1401-1416, 1993 PAT,MUT,MCH,EXP,MOD "Roessler E &: Nature Genet, 14, N3, 357-360, 1996 |
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KEY |
devd, bone |
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CLA |
coding, basic |
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LOC |
07 q36 |
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MIM |
MIM: 600725 |
|
SYN |
HLP3 HPE3 |
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