Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
about
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationPaternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteinsProgressive osseous heteroplasia: diagnosis, treatment, and prognosisAutosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female.Ecology drives intragenomic conflict over menopause.Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.
P2860
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P2860
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
description
1998 nî lūn-bûn
@nan
1998年の論文
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年學術文章
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1998年學術文章
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name
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@en
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@nl
type
label
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@en
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@nl
prefLabel
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@en
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@nl
P2093
P1476
Pseudohypoparathyroidism type ...... on of a Gsalpha gene mutation.
@en
P2093
Brickman AS
Christenson RA
Nakamoto JM
Sandstrom AT
P304
P356
10.1002/(SICI)1096-8628(19980526)77:4<261::AID-AJMG2>3.3.CO;2-I
P577
1998-05-01T00:00:00Z