Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

T. Takeichi; A. Nanda; H.-s. Yang; C.-k. Hsu; J.y.-y. Lee; H. Al-ajmi; M. Akiyama; M.a. Simpson; J.a. Mcgrath

doi:10.1111/bjd.14845

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

T. Takeichi, A. Nanda, H.-s. Yang, C.-k. Hsu, J.y.-y. Lee, H. Al-ajmi, M. Akiyama, M.a. Simpson, J.a. Mcgrath

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Abstract

Poikiloderma in neonates and infants often presents a diagnostic challenge, with the differential diagnosis including rare inherited disorders such as Rothmund-Thomson syndrome, Bloom syndrome, dyskeratosis congenita, Baller-Gerold syndrome, poikiloderma with neutropaenia, Weary syndrome and Kindler syndrome.1 Moreover, the differential diagnosis may also include subtypes of porphyria and xeroderma pigmentosum, as well as other rare metabolic, neoplastic, mitochondrial or premature ageing disorders, including Werner syndrome.

Original language	English
Journal	British Journal of Dermatology
DOIs	https://doi.org/10.1111/bjd.14845
Publication status	Published - 1 Jul 2016

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Syndromic inherited poikiloderma due_TAKEICHI_Accepted 12Jun2016_GREEN AAMAccepted author manuscript, 255 KB

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title = "Syndromic inherited poikiloderma due to a de novo mutation in FAM111B",

abstract = "Poikiloderma in neonates and infants often presents a diagnostic challenge, with the differential diagnosis including rare inherited disorders such as Rothmund-Thomson syndrome, Bloom syndrome, dyskeratosis congenita, Baller-Gerold syndrome, poikiloderma with neutropaenia, Weary syndrome and Kindler syndrome.1 Moreover, the differential diagnosis may also include subtypes of porphyria and xeroderma pigmentosum, as well as other rare metabolic, neoplastic, mitochondrial or premature ageing disorders, including Werner syndrome.",

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T1 - Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

AU - Takeichi, T.

AU - Nanda, A.

AU - Yang, H.-s.

AU - Hsu, C.-k.

AU - Lee, J.y.-y.

AU - Al-ajmi, H.

AU - Akiyama, M.

AU - Simpson, M.a.

AU - Mcgrath, J.a.

PY - 2016/7/1

Y1 - 2016/7/1

N2 - Poikiloderma in neonates and infants often presents a diagnostic challenge, with the differential diagnosis including rare inherited disorders such as Rothmund-Thomson syndrome, Bloom syndrome, dyskeratosis congenita, Baller-Gerold syndrome, poikiloderma with neutropaenia, Weary syndrome and Kindler syndrome.1 Moreover, the differential diagnosis may also include subtypes of porphyria and xeroderma pigmentosum, as well as other rare metabolic, neoplastic, mitochondrial or premature ageing disorders, including Werner syndrome.

AB - Poikiloderma in neonates and infants often presents a diagnostic challenge, with the differential diagnosis including rare inherited disorders such as Rothmund-Thomson syndrome, Bloom syndrome, dyskeratosis congenita, Baller-Gerold syndrome, poikiloderma with neutropaenia, Weary syndrome and Kindler syndrome.1 Moreover, the differential diagnosis may also include subtypes of porphyria and xeroderma pigmentosum, as well as other rare metabolic, neoplastic, mitochondrial or premature ageing disorders, including Werner syndrome.

U2 - 10.1111/bjd.14845

DO - 10.1111/bjd.14845

M3 - Article

SN - 0007-0963

JO - British Journal of Dermatology

JF - British Journal of Dermatology

ER -

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

Abstract

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