Shprintzen-Goldberg syndrome: a rare disorder.

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Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report.Sensorineural Hearing Loss Associated With Bupropion Use.

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P2860

Shprintzen-Goldberg syndrome: a rare disorder.

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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

@wuu

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

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

@zh-hant

name

Shprintzen-Goldberg syndrome: a rare disorder.

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type

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Shprintzen-Goldberg syndrome: a rare disorder.

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Shprintzen-Goldberg syndrome: a rare disorder.

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P1476

Shprintzen-Goldberg syndrome: a rare disorder.

@en

P2093

Gautam Rawal

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Sankalp Yadav

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P275

Creative Commons Attribution 2.0 Generic

P2860

The molecular genetics of Marfan syndrome and related microfibrillopathies

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.

A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias.

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.

Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.

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227

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scholarly article

review article

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10.11604/PAMJ.2016.23.227.7482

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2016-04-25T00:00:00Z

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27761171

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Marfan syndrome

craniosynostosis

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5052323

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Shprintzen-Goldberg syndrome: a rare disorder.

about

P2860

P2860

Shprintzen-Goldberg syndrome: a rare disorder.

description

name

type

label

prefLabel

P1433

P1476

P2093

P275

P2860

P304

P31

P356

P478

P5008

P577

P698

P921

P932

P356

P1433

P1476

P2093

P275

P2860

P304

P31

P356

P478

P5008

P577

P698

P921

P932