Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

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Recent advances in liver transplantation for metabolic disease.Os Odontoideum: A Comprehensive Clinical and Surgical Review.

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Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

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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

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2016年論文

@zh-hant

2016年論文

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2016年論文

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2016年論文

@zh-tw

2016年论文

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2016年论文

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2016年论文

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name

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

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Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

@nl

type

Item

label

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

@en

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

@nl

prefLabel

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

@en

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

@nl

P1476

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

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P2093

C R Buchanan

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G Solanki

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N Thomas

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R P Dias

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R R Kapoor

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S E J Connor

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S Lim

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P2860

Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

Wolcott-Rallison syndrome

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Os odontoideum: etiology and surgical management.

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

P2888

s13023-016-0397-z

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scholarly article

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10.1186/S13023-016-0397-Z

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Timothy Barrett

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2016-02-10T00:00:00Z

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Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

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P2860

P2860

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P6179

P698

P932