Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

Héctor Hugo Manzanilla-Romero; Denisa Weis; Simon Schnaiter; Sabine Rudnik-Schöneborn

doi:10.1002/ajmg.a.62433

Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

Héctor Hugo Manzanilla-Romero, Denisa Weis, Simon Schnaiter, Sabine Rudnik-Schöneborn

Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	3851-3858
Number of pages	8
Journal	American Journal of Medical Genetics - Part A
Volume	185
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.62433
Publication status	Published - Dec 2021

Fields of science

303 Health Sciences
304 Medical Biotechnology
305 Other Human Medicine, Health Sciences
301 Medical-Theoretical Sciences, Pharmacy
302 Clinical Medicine

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10.1002/ajmg.a.62433

Cite this

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title = "Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways",

author = "Manzanilla-Romero, \{H{\'e}ctor Hugo\} and Denisa Weis and Simon Schnaiter and Sabine Rudnik-Sch{\"o}neborn",

year = "2021",

month = dec,

doi = "10.1002/ajmg.a.62433",

language = "English",

volume = "185",

pages = "3851--3858",

journal = "American Journal of Medical Genetics - Part A",

issn = "1552-4833",

number = "12",

}

Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways. / Manzanilla-Romero, Héctor Hugo; Weis, Denisa; Schnaiter, Simon et al.
In: American Journal of Medical Genetics - Part A, Vol. 185, No. 12, 12.2021, p. 3851-3858.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

AU - Manzanilla-Romero, Héctor Hugo

AU - Weis, Denisa

AU - Schnaiter, Simon

AU - Rudnik-Schöneborn, Sabine

PY - 2021/12

Y1 - 2021/12

UR - https://www.scopus.com/pages/publications/85111551844

U2 - 10.1002/ajmg.a.62433

DO - 10.1002/ajmg.a.62433

M3 - Article

C2 - 34328706

SN - 1552-4833

VL - 185

SP - 3851

EP - 3858

JO - American Journal of Medical Genetics - Part A

JF - American Journal of Medical Genetics - Part A

IS - 12

ER -

Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

Fields of science

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