常染色体隐性EXT2综合征——延长了新发疾病的表型谱，又一个病例?

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2022-04-01 DOI:10.1097/MCD.0000000000000406

Ataf H Sabir, Juhi Singhal, Jessica Man, Nicola Cooper, Moira Cheung, Melita Irving

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Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, Institute of Cancer and Genomic Sciences, University of Birmingham, Department of Clinical Genetics, Lavender House, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, Department of Medicine, West Hertfordshire Hospitals NHS Trust, Hertfordshire, Department of Paediatric Endocrinology, Evelina London Children’s Hospital, London, Guy’s King’s College and Saint Thomas’ Hospitals’ Medical and Dental School of King’s College London: King’s College London, School of Medical Education

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.