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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_00718148v1

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

BackgroundHoloprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isola...

Alternative Titles

Full title

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_inserm_00718148v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_00718148v1

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2012-101008