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Article

Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.

American journal of medical genetics. Part A - 1 Jun 2026

Kanno Miyako, Sato Hiroko, Uemura Yuta, Meguro Toru, Ishigaki Ryusuke, Kawasaki Naomi, Abiko Masayuki, Suzuki Kota, Numakura Chikahiko, Tamiya Gen, Takayama Jun, Kure Shigeo, Saijo Naoya, Kikuchi Atsuo, Mitsui Tetsuo

Abstract excerpt

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a congenital disorder characterized by lymphedema, telangiectasia, and hypotrichosis or alopecia, caused by mutations in the SRY-related high-mobility group box (SOX) 18 gene. We report the case of a 10-year-old boy who presented with aortic valve regurgitation, marbled skin, minor anomalies, and iron-deficiency anemia due to frequent mucosal bleeding. At...

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Identifiers

PMID: 41589511
DOI: 10.1002/ajmga.70068

Genes

SOX18
VWF
SRY

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.PMID 41589511Read ↗

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