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Article

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Pituitary - 1 Dec 2014

Takagi Masaki, Ishii Tomohiro, Torii Chiharu, Kosaki Kenjiro, Hasegawa Tomonobu

Abstract excerpt

INTRODUCTION: Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. PATIENTS AND METHODS: We report a Japanese male patient with molecularly confirmed Kabuki syndrome who was found to have CPHD. We analyzed all...

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Source

Identifiers

PMID: 24346842
DOI: 10.1007/s11102-013-0546-5

Genes

SOX3
HESX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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