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Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)

Standard

Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy). / PANTELIADIS, CP; Hagel, Christian.

Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . Hrsg. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. Aufl. Zürich : Springer International Publishing, 2022. S. 435-443.

Publikationen: SCORING: Beitrag in Buch/Sammelwerk › Kapitel › Forschung

Harvard

PANTELIADIS, CP & Hagel, C 2022, Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy). in C Panteliadis, R Benjamin & C Hagel (Hrsg.), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . 3 Aufl., Springer International Publishing, Zürich, S. 435-443.

APA

PANTELIADIS, CP., & Hagel, C. (2022). Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy). in C. Panteliadis, R. Benjamin, & C. Hagel (Hrsg.), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach (3 Aufl., S. 435-443). Springer International Publishing.

Vancouver

PANTELIADIS CP, Hagel C. Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy). in Panteliadis C, Benjamin R, Hagel C, Hrsg., Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . 3 Aufl. Zürich: Springer International Publishing. 2022. S. 435-443

Bibtex

@inbook{e401786fe2904e6a9d2b62ac87062c72,
title = "Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)",
abstract = "Menkes disease, also known as kinky hair disease (OMIM 309400), is a lethal X-linked recessive neurodegenerative disease of impaired copper transport. Menkes first described the disease in 1962, followed by Danks{\textquoteright} keen observation in 1973. The incidence of Menkes disease in Europe is approximately 1 in 300,000 live births, caused by mutations in the Xq13.3 gene ATP7A. Clinical symptoms, in addition to pili torti (kinky hair), begin at 2–3 months of age with loss of developmental milestones, truncal hypotonia, seizures, urologic problems, recurrent infections, and failure to thrive. Milder variants of Menkes disease include the occipital horn syndrome (also known as X-linked cutis laxa or Ehlers-Danlos type 9). The clinical characteristics, pathophysiology, diagnosis, and management options are reviewed in this chapter.",
author = "CP PANTELIADIS and Christian Hagel",
year = "2022",
month = feb,
day = "4",
language = "English",
isbn = "978-3-030-87892-4",
pages = "435--443",
editor = "Christos Panteliadis and Ramsis Benjamin and Christian Hagel",
booktitle = "Neurocutaneous Disorders",
publisher = "Springer International Publishing",
address = "Switzerland",
edition = "3",

}

RIS

TY - CHAP

T1 - Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)

AU - PANTELIADIS, CP

AU - Hagel, Christian

PY - 2022/2/4

Y1 - 2022/2/4

N2 - Menkes disease, also known as kinky hair disease (OMIM 309400), is a lethal X-linked recessive neurodegenerative disease of impaired copper transport. Menkes first described the disease in 1962, followed by Danks’ keen observation in 1973. The incidence of Menkes disease in Europe is approximately 1 in 300,000 live births, caused by mutations in the Xq13.3 gene ATP7A. Clinical symptoms, in addition to pili torti (kinky hair), begin at 2–3 months of age with loss of developmental milestones, truncal hypotonia, seizures, urologic problems, recurrent infections, and failure to thrive. Milder variants of Menkes disease include the occipital horn syndrome (also known as X-linked cutis laxa or Ehlers-Danlos type 9). The clinical characteristics, pathophysiology, diagnosis, and management options are reviewed in this chapter.

AB - Menkes disease, also known as kinky hair disease (OMIM 309400), is a lethal X-linked recessive neurodegenerative disease of impaired copper transport. Menkes first described the disease in 1962, followed by Danks’ keen observation in 1973. The incidence of Menkes disease in Europe is approximately 1 in 300,000 live births, caused by mutations in the Xq13.3 gene ATP7A. Clinical symptoms, in addition to pili torti (kinky hair), begin at 2–3 months of age with loss of developmental milestones, truncal hypotonia, seizures, urologic problems, recurrent infections, and failure to thrive. Milder variants of Menkes disease include the occipital horn syndrome (also known as X-linked cutis laxa or Ehlers-Danlos type 9). The clinical characteristics, pathophysiology, diagnosis, and management options are reviewed in this chapter.

M3 - Chapter

SN - 978-3-030-87892-4

SP - 435

EP - 443

BT - Neurocutaneous Disorders

A2 - Panteliadis, Christos

A2 - Benjamin, Ramsis

A2 - Hagel, Christian

PB - Springer International Publishing

CY - Zürich

ER -