Endocrinological and phenotype evaluation in a patient with acrodysostosis.

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Endocrinological and phenotype evaluation in a patient with acrodysostosis.

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http://www.wikidata.org/entity/Q41191327

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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name

Endocrinological and phenotype evaluation in a patient with acrodysostosis.

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label

Endocrinological and phenotype evaluation in a patient with acrodysostosis.

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prefLabel

Endocrinological and phenotype evaluation in a patient with acrodysostosis.

@en

P1476

Endocrinological and phenotype evaluation in a patient with acrodysostosis

@en

P2093

Kaoru Ueyama

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Keiichi Ozono

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

Keiko Yamamoto

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Makoto Fujiwara

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Noriyuki Namba

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Taichi Kitaoka

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Takuo Kubota

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P2860

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis

Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society.

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.

Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia.

PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

P304

177-182

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P31

scholarly article

P356

10.1297/CPE.26.177

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P433

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

P478

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P50

Yasuhisa Ohata

P577

2017-07-27T00:00:00Z

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P698

28804209

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P932

5537214

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