A rare case of skeletal dysplasia: biallelic variant in <i>ACAN</i> gene

SEMD-ACAN is a rare genetic condition that affects bone growth and development and can cause physical and developmental abnormalities. This article highlights the importance of considering genetic testing in characteristic symptoms associated with SEMD-ACAN, such as severe growth retardation and skeletal abnormalities.

Authors

Gülçin Arslan (ORCID: https://orcid.org/0000-0003-4506-2654)
Gülin Tabanlı (ORCID: https://orcid.org/0000-0002-7569-3820)
Behzat Özkan (ORCID: https://orcid.org/0000-0002-9153-8409)
Tarık Kırkgöz (ORCID: https://orcid.org/0000-0003-3450-9780)
Fılız Hazan (ORCID: https://orcid.org/0000-0002-0382-3446)

Institutions

University of Health Science (KH)
Sağlık Bilimleri Üniversitesi (TR)

Publication Details

Journal: Journal of Pediatric Endocrinology and Metabolism
Published: 2024-09-19
DOI: https://doi.org/10.1515/jpem-2024-0255
Citations: 1
Primary Topic: Connective tissue disorders research
Type: article
Field-Weighted Citation Impact: 0.55

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article

A rare case of skeletal dysplasia: biallelic variant in ACAN gene

Gülçin Arslan, Gülin Tabanlı, Behzat Özkan, Tarık Kırkgöz et al.

Sep 19, 2024

1 citations

Journal of Pediatric Endocrinology and Metabolism

Connective tissue disorders research

0.55

article

A rare case of skeletal dysplasia: biallelic variant in ACAN gene

Gülçin Arslan, Gülin Tabanlı, Behzat Özkan, Tarık Kırkgöz, Fılız Hazan

September 19, 2024article en

1 citations

Abstract

SEMD-ACAN is a rare genetic condition that affects bone growth and development and can cause physical and developmental abnormalities. This article highlights the importance of considering genetic testing in characteristic symptoms associated with SEMD-ACAN, such as severe growth retardation and skeletal abnormalities.

Journal of Pediatric Endocrinology and MetabolismVol. 37(12)

University of Health Science (KH), Sağlık Bilimleri Üniversitesi (TR)

Good health and well-being

Openalex Percentile: Top 26%

Connective tissue disorders research

0.55

DOI Source OpenAlex

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