Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).
about
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)The Axenfeld syndrome and the Rieger syndromePituitary transcription factors: from congenital deficiencies to gene therapyAnalysis of three Ptx2 splice variants on transcriptional activity and differential expression pattern in the brainMicrophthalmia with single central incisor and hypopituitarismRecessively inherited growth hormone deficiency in a family from Iraq.Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndromeAetiology of idiopathic growth hormone deficiency in England and WalesRothmund-Thomson syndrome: a report of two patients and a review of the literature.Exclusion of PITX2 mutations as a major cause of CHARGE association.
P2860
Q24810253-2EBCA834-E64E-4792-AB4E-6AC52B1E17DBQ28237407-BC31D512-3AA6-4D7A-B1AD-392C2629B23BQ28255040-1B0376EC-FCCD-4EE9-86F9-83381D23DE40Q28565511-2DD83EEA-D690-41F0-8F43-8710B8DB29ECQ33597456-8AF98ECB-6EAF-4123-9B83-FC5FB7333D1AQ33668134-80F4A132-7648-44E0-BA18-264E2476C749Q34213060-DF4CC41B-706A-4F56-B3F9-B33B729A6A53Q34989755-43FAD727-2054-4F3A-A6EC-E7D15829ADD8Q37940961-C2512955-E40D-4F5A-88FC-8E21B26E733BQ52117160-C4E4B42F-6E15-4087-9BA8-AC615ED08A3E
P2860
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).
description
1974 nî lūn-bûn
@nan
1974年の論文
@ja
1974年学术文章
@wuu
1974年学术文章
@zh-cn
1974年学术文章
@zh-hans
1974年学术文章
@zh-my
1974年学术文章
@zh-sg
1974年學術文章
@yue
1974年學術文章
@zh
1974年學術文章
@zh-hant
name
Autosomal dominant transmissio ...... dysplasia (Rieger's syndrome).
@en
Autosomal dominant transmissio ...... iency in iris-dental dysplasia
@nl
type
label
Autosomal dominant transmissio ...... dysplasia (Rieger's syndrome).
@en
Autosomal dominant transmissio ...... iency in iris-dental dysplasia
@nl
prefLabel
Autosomal dominant transmissio ...... dysplasia (Rieger's syndrome).
@en
Autosomal dominant transmissio ...... iency in iris-dental dysplasia
@nl
P1476
Autosomal dominant transmissio ...... dysplasia (Rieger's syndrome).
@en
P2093
Sadeghi-Nejad A
P304
P356
10.1016/S0022-3476(74)80507-X
P407
P577
1974-11-01T00:00:00Z