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Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation Cover

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
By: DB Sayın Kocakap,  Ö Gündüz,  L Özer and  M Durak  
Open Access
|Jun 2022
Figures & tables

Figures & Tables

Figure 1

Dermatologic findings of patient 1. a) Numerous light brown colored patches-café au lait spots (thin arrows) on the back of the patient along with soft papules (bold arrow). b) Axillary freckling with an axillary café au lait macule. c) Close-up view of soft subcutaneous papules with a bluish hue (bold arrows).

Figure 2

Dermatologic findings of patient 2. a, b) Numerous café au lait spots on the trunk and proximal part of the patient's thigh (black arrows), brown-colored soft plaques covered with terminal hair on the patient's left arm (white arrows). c) Close-up view of the arms showing hypertrichosis on the left arm.

Figure 3

Pedigree of the family, affected family members are indicated as black circles. Mutation analysis was performed only for III-6 and III-7 (proband).

Figure 4

Electropherogram of the Sanger sequencing confirmed the mutation c.5392C>T, p.Gln1798Ter in exon 38 of the NF1 gene. The arrow indicates the position of the c.5392C>T mutation. The proband and his eldest sister were heterozygotes.
DOI: https://doi.org/10.2478/bjmg-2021-0021 | Journal eISSN: 2199-5761
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Language: English
Page range: 99 - 102
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Familial,
Mutation,
Neurofibromatosis type 1 (NF1)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2022 DB Sayın Kocakap, Ö Gündüz, L Özer, M Durak, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Volume 24 (2021): Issue 2 (November 2021)
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