Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for …
H Kehrer-Sawatzki, DN Cooper - Human genetics, 2022 - Springer
Abstract Neurofibromatosis type 1 (NF1) is the most frequent disorder associated with
multiple café-au-lait macules (CALM) which may either be present at birth or appear during …
multiple café-au-lait macules (CALM) which may either be present at birth or appear during …
[HTML][HTML] Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …
Café au lait spots: when and how to pursue their genetic origins
L Lalor, OMT Davies, D Basel, DH Siegel - Clinics in dermatology, 2020 - Elsevier
Café au lait spots are common birthmarks seen sporadically and in association with several
genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by …
genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by …
Cutaneous and systemic findings in mosaic neurofibromatosis type 1
I Vázquez‐Osorio, A Duat‐Rodríguez… - Pediatric …, 2017 - Wiley Online Library
Abstract Background/Objectives Mosaic neurofibromatosis type 1 (MNF 1) is a variant of
neurofibromatosis type 1 (NF 1) in which clinical manifestations are limited to one or several …
neurofibromatosis type 1 (NF 1) in which clinical manifestations are limited to one or several …
[HTML][HTML] Legius syndrome
E Legius, D Stevenson - GeneReviews®[Internet], 2020 - ncbi.nlm.nih.gov
Legius syndrome is characterized by multiple café au lait macules without neurofibromas or
other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical …
other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical …
[PDF][PDF] SPRED1 基因突变致Legius 综合征1 例病例报告
任韵清， 丘贵英， 刘吉鹏， 吴鼎文 - 中国循证儿科杂志, 2022 - cjebp.net
江大学医学院附属儿童医院(我院) 皮肤科门诊. 患儿出生时躯干, 四肢即有多发褐色斑片,
随年龄增长数量逐渐增多, 面积增大, 无疼痛, 瘙痒等不适. 患儿足月自然分娩 …
随年龄增长数量逐渐增多, 面积增大, 无疼痛, 瘙痒等不适. 患儿足月自然分娩 …
Mosaic NF1
G Tadini, T Schgor, M Brena - Multidisciplinary Approach to …, 2020 - Springer
Abstract Mosaic NF1 (MNF1) is a clinical variant of NF1, so far called “segmental” or
“localized” or NF type V, due to post-zygotic mutations in the NF1 gene. The clinical …
“localized” or NF type V, due to post-zygotic mutations in the NF1 gene. The clinical …
Mosaic manifestation of autosomal dominant skin disorders
R Happle, A Torrelo - Mosaicism in Human Skin: Understanding Nevi …, 2022 - Springer
A mosaic arrangement of skin lesions has been noted in numerous autosomal dominant
traits including hereditary multiple skin tumors, disorders of keratinization, diseases of the …
traits including hereditary multiple skin tumors, disorders of keratinization, diseases of the …
The neurofibromatoses
A Theos, KP Boyd, BR Korf - Harper's Textbook of Pediatric …, 2019 - Wiley Online Library
The neurofibromatoses encompass three distinct inherited disorders: neurofibromatosis type
1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. These disorders share the …
1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. These disorders share the …
Revised diagnostic criteria for neurofibromatosis type 1 (NF1) enable early accurate differential diagnostic distinction from other RASopathies and facilitate the …
H Kehrer-Sawatzki, S Farschtschi… - Monatsschrift …, 2021 - Springer
Zusammenfassung Hintergrund Die Neurofibromatose Typ 1 (NF1) ist eines der häufigsten
erblichen Tumorprädispositionssyndrome und zählt zu den RASopathien, einer Gruppe von …
erblichen Tumorprädispositionssyndrome und zählt zu den RASopathien, einer Gruppe von …