Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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http://www.wikidata.org/entity/Q53919010

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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name

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

@en

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

@en

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue

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Elisabetta Tabolacci

http://www.w3.org/2001/XMLSchema#string

Giovanni Neri

http://www.w3.org/2001/XMLSchema#string

Roberta Pietrobono

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Glypicans

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

The role of glypicans in Hedgehog signaling.

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

A new X-linked mental retardation-overgrowth syndrome.

Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families

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285-288

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scholarly article

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10.1002/AJMG.A.38003

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English

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173

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Alessandro Vaisfeld

Maria Grazia Pomponi

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2016-10-14T00:00:00Z

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27739211

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Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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P2860

P2860

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

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type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698