A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

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A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

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label

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

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prefLabel

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

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P1476

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

@en

P2093

Ali Abdullah Alfaiz

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Bartolomeo Augello

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Carmela Fusco

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Giuseppe Merla

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Leopoldo Zelante

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Maria Teresa Pellico

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Natascia Malerba

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Pasquelena De Nittis

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P2860

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type

Primer3 on the WWW for general users and for biologist programmers

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

The osteoblastogenesis potential of adipose mesenchymal stem cells in myeloma patients who had received intensive therapy

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

P304

98-102

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P31

scholarly article

case report

P356

10.1055/S-0036-1588029

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P433

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P478

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P50

Alexandre Reymond

P577

2016-08-31T00:00:00Z

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P698

28496997

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P932

5423807

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