Clinical Dysmorphology

Current Issue

October 2021 - Volume 30 - Issue 4

Editor-in-Chief: Dian Donnai
ISSN: 0962-8827
Online ISSN: 1473-5717
Frequency: 4 issues / year
Ranking: 165 of 175 Genetics & Heredity
Impact Factor: 0.816

Current Issue Highlights

Original Articles

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature

Butler, Kameryn M.; Bahrambeigi, Vahid; Merrihew, Allie; More

Clinical Dysmorphology. 30(4):167-172, October 2021.

Short Case Reports

Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures

Ure, Mamie Curley; Hamilton, Mark James

Clinical Dysmorphology. 30(4):177-180, October 2021.

Welcome ASHG Members!

Recognized internationally as the leading journal in its field, Clinical Dysmorphology is the place to turn for objective and authoritative information on the etiology, clinical delineation, genetic mapping and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes—with emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, foetal abnormalities and cytogenetic aberrations that might give clues to the localization of developmental genes.

Clinical Dysmorphology continues to advance the field by presenting important original research and groundbreaking papers that influence how you and your colleagues practice every day, improving quality of care and outcomes for patients globally.

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