Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
about
Pseudohypoparathyroidism: one gene, several syndromes.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.The p.R56* mutation in PTHLH causes variable brachydactyly type E.Parathyroid Hormone-Related Protein in the Hand or Out of Hand?Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
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Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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2015年學術文章
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name
Report of two novel mutations ...... type E and literature review.
@en
Report of two novel mutations ...... type E and literature review.
@nl
type
label
Report of two novel mutations ...... type E and literature review.
@en
Report of two novel mutations ...... type E and literature review.
@nl
prefLabel
Report of two novel mutations ...... type E and literature review.
@en
Report of two novel mutations ...... type E and literature review.
@nl
P2093
P2860
P356
P1476
Report of two novel mutations ...... y type E and literature review
@en
P2093
Arrate Pereda
Caroline Silve
Cecile Thomas-Teinturier
Guiomar Pérez de Nanclares
Ignacio Diez-Lopez
Intza Garin
P2860
P304
P356
10.1002/AJMG.A.37490
P407
P577
2015-12-06T00:00:00Z