The <i>NF1</i> microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease-Reference-Cited by-同舟云学术

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The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease

Published:2022-03 Issue:3 Volume:20 Page:273-277
ISSN:1610-0379
Container-title:JDDG: Journal der Deutschen Dermatologischen Gesellschaft
language:en
Short-container-title:J Deutsche Derma Gesell

Author:

Kehrer‐Sawatzki Hildegard¹,Bäzner Ute²,Krämer Johannes³,Lewerenz Jan⁴,Pfeiffer Christiane⁵

Affiliation:

1. Institute of Human Genetics Ulm University Medical Center Ulm Germany

2. Department of Neurosurgery Ulm University Medical Center Günzburg Germany

3. Department of Pediatrics and Adolescent Medicine Ulm University Medical Center Ulm Germany

4. Department of Neurology Ulm University Medical Center Ulm Germany

5. Department of Dermatology and Allergology Ulm University Medical Center Ulm Germany

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ddg.14707

Reference22 articles.

1. Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

2. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.

3. Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children

4. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

5. Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy

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1. Neurocutaneous Diseases: Diagnosis, Management, and Treatment;Journal of Clinical Medicine;2024-03-13

2. Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center;International Journal of Developmental Neuroscience;2023-06-06

3. Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior;Children;2023-02-09

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