Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Kniest dysplasia is a very rare skeletal dysplasia, and an accurate clinical diagnosis is important to provide the best possible follow-up.

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Publication Details

Journal
Molecular Syndromology
Published
2024-09-19
DOI
https://doi.org/10.1159/000541135
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00
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article

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Tuğba Daşar, Pelin Özlem Şimşek‐Kiper, Abdülkerim Kolkıran, Ahmet Kablan
Molecular Syndromology
Connective tissue disorders research
article

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Tuğba Daşar, Pelin Özlem Şimşek‐Kiper, Abdülkerim Kolkıran, Ahmet Kablan
article en

Abstract

Kniest dysplasia is a very rare skeletal dysplasia, and an accurate clinical diagnosis is important to provide the best possible follow-up.

Molecular SyndromologyVol. 16(3)
Bilkent University (TR), Memorial Ankara Hospital (TR), Başkent University Hospital (TR), Hacettepe University (TR)
Openalex Percentile: Top 83%
Connective tissue disorders research
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