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A Case of Primary Hypogonadism with Features of Albright's Syndrome.Radiographic assessment of congenital malformations of the upper extremity.Genetics of Short Stature.Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.A PDE3A mutation in familial hypertension and brachydactyly syndrome.Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.
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description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Brachydactyly E: isolated or as a feature of a syndrome
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Brachydactyly E: isolated or as a feature of a syndrome.
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type
label
Brachydactyly E: isolated or as a feature of a syndrome
@en
Brachydactyly E: isolated or as a feature of a syndrome.
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prefLabel
Brachydactyly E: isolated or as a feature of a syndrome
@en
Brachydactyly E: isolated or as a feature of a syndrome.
@nl
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P2860
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P1476
Brachydactyly E: isolated or as a feature of a syndrome
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Ane Miren Ibañez
Blanca Gener
Elena Beristain
Intza Garin
Maria Garcia-Barcina
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P2888
P356
10.1186/1750-1172-8-141
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P577
2013-09-12T00:00:00Z
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P6179
1005886410