Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency

Bukola A. Olarewaju; Judy B. Tejon; Misha B. Asif; Mayowa A. Osundiji

doi:10.1016/j.ymgme.2025.109174

Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency

Bukola A. Olarewaju
, Judy B. Tejon
, Misha B. Asif
, Mayowa A. Osundiji (Lead / Corresponding author)

Civil Engineering

Research output: Contribution to journal › Letter › peer-review

Original language	English
Article number	109174
Journal	Molecular Genetics and Metabolism
Volume	145
Issue number	4
Early online date	11 Jun 2025
DOIs	https://doi.org/10.1016/j.ymgme.2025.109174
Publication status	Published - Aug 2025

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Colon
NSDHL
Xanthomas

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

Access to Document

10.1016/j.ymgme.2025.109174

Cite this

@article{5f62513ad68e40a88c635349220740eb,

title = "Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency",

keywords = "Colon, NSDHL, Xanthomas",

author = "Olarewaju, \{Bukola A.\} and Tejon, \{Judy B.\} and Asif, \{Misha B.\} and Osundiji, \{Mayowa A.\}",

note = "{\textcopyright} 2025 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.",

year = "2025",

month = aug,

doi = "10.1016/j.ymgme.2025.109174",

language = "English",

volume = "145",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "4",

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TY - JOUR

T1 - Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia

T2 - Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency

AU - Olarewaju, Bukola A.

AU - Tejon, Judy B.

AU - Asif, Misha B.

AU - Osundiji, Mayowa A.

PY - 2025/8

Y1 - 2025/8

KW - Colon

KW - NSDHL

KW - Xanthomas

UR - https://www.scopus.com/pages/publications/105007868302

U2 - 10.1016/j.ymgme.2025.109174

DO - 10.1016/j.ymgme.2025.109174

M3 - Letter

C2 - 40517742

AN - SCOPUS:105007868302

SN - 1096-7192

VL - 145

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

M1 - 109174

ER -

Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency

UN SDGs

Keywords

ASJC Scopus subject areas

Access to Document

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Cite this