TY - JOUR
T1 - A novel KAL1 mutation is associated with combined pituitary hormone deficiency
AU - Takagi, Masaki
AU - Narumi, Satoshi
AU - Hamada, Riku
AU - Hasegawa, Yukihiro
AU - Hasegawa, Tomonobu
N1 - Publisher Copyright:
© 2014 The Japan Society of Human Genetics All rights reserved.
PY - 2014
Y1 - 2014
N2 - Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
AB - Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental course associated with KAL1 mutations.
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U2 - 10.1038/hgv.2014.11
DO - 10.1038/hgv.2014.11
M3 - Article
AN - SCOPUS:84960311133
SN - 2054-345X
VL - 1
JO - Human Genome Variation
JF - Human Genome Variation
M1 - 14011
ER -