Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea

scientific article published on May 2017

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3349/YMJ.2017.58.3.527
P932PMC publication ID5368137
P698PubMed publication ID28332357

P2093author name stringBeom Hee Lee
Jin Ho Choi
Eungu Kang
Gu Hwan Kim
Han Wook Yoo
Sun Hee Heo
Yoon Myung Kim
Chang Woo Jung
P2860cites workGenetic screening of combined pituitary hormone deficiency: experience in 195 patients.Q53254800
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseQ24323305
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imagingQ28188314
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypesQ29147548
Genetic regulation of pituitary gland development in human and mouseQ33590141
Heritable disorders of pituitary developmentQ33795633
Molecular basis of combined pituitary hormone deficienciesQ34146692
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patientQ34169421
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasiaQ34269693
Novel insights into the aetiology and pathogenesis of hypopituitarismQ34367104
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarismQ34587897
Genetic defects in the development and function of the anterior pituitary glandQ34782191
Genetic forms of hypopituitarism and their manifestation in the neonatal periodQ37599119
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyondQ37852208
Pituitary gland development: an updateQ38062709
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.Q38543146
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiencyQ39883314
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.Q41698332
Congenital hypopituitarism: clinical, molecular and neuroradiological correlatesQ44401699
An update on the biochemical diagnosis of congenital ACTH insufficiencyQ45282217
Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in childrenQ47325058
Magnetic resonance imaging in the diagnosis of growth hormone deficiencyQ48473818
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasiaQ49120156
P275copyright licenseCreative Commons Attribution-NonCommercial 3.0 UnportedQ18810331
P6216copyright statuscopyrightedQ50423863
P433issue3
P304page(s)527-532
P577publication date2017-05-01
P1433published inYonsei Medical JournalQ8055114
P1476titleRare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea
P478volume58

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cites work (P2860)
Q55050852Congenital hypopituitarism: how to select the patients for genetic analyses.
Q59812905LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents