Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

L. M. Boyden; B. G. Craiglow; R. H. Hu; J. Zhou; J. Browning; L. Eichenfield; Y. L. Lim; M. Luu; L. M. Randolph; M. Ginarte; L. Fachal; L. Rodriguez-Pazos; A. Vega; D. Kramer; G. Yosipovitch; H. Vahidnezhad; L. Youssefian; J. Uitto; R. P. Lifton; A. S. Paller; L. M. Milstone; K. A. Choate

doi:10.1111/bjd.15570

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

L. M. Boyden, B. G. Craiglow, R. H. Hu, J. Zhou, J. Browning, L. Eichenfield, Y. L. Lim, M. Luu, L. M. Randolph, M. Ginarte, L. Fachal, L. Rodriguez-Pazos, A. Vega, D. Kramer, G. Yosipovitch, H. Vahidnezhad, L. Youssefian, J. Uitto, R. P. Lifton, A. S. PallerL. M. Milstone, K. A. Choate^*

^*Corresponding author for this work

Dermatology

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

21 Scopus citations

Original language	English (US)
Pages (from-to)	319-322
Number of pages	4
Journal	British Journal of Dermatology
Volume	177
Issue number	1
DOIs	https://doi.org/10.1111/bjd.15570
State	Published - Jul 2017

ASJC Scopus subject areas

Dermatology

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10.1111/bjd.15570

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Boyden, L. M., Craiglow, B. G., Hu, R. H., Zhou, J., Browning, J., Eichenfield, L., Lim, Y. L., Luu, M., Randolph, L. M., Ginarte, M., Fachal, L., Rodriguez-Pazos, L., Vega, A., Kramer, D., Yosipovitch, G., Vahidnezhad, H., Youssefian, L., Uitto, J., Lifton, R. P., ... Choate, K. A. (2017). Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. British Journal of Dermatology, 177(1), 319-322. https://doi.org/10.1111/bjd.15570

@article{ab82d3cb01b7407eb12b495bdb290620,

title = "Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation",

author = "Boyden, {L. M.} and Craiglow, {B. G.} and Hu, {R. H.} and J. Zhou and J. Browning and L. Eichenfield and Lim, {Y. L.} and M. Luu and Randolph, {L. M.} and M. Ginarte and L. Fachal and L. Rodriguez-Pazos and A. Vega and D. Kramer and G. Yosipovitch and H. Vahidnezhad and L. Youssefian and J. Uitto and Lifton, {R. P.} and Paller, {A. S.} and Milstone, {L. M.} and Choate, {K. A.}",

note = "Funding Information: Funding sources: this work was supported by NIH/NIAMS R01 AR068392 and the Yale Center for Mendelian Genomics (U54 HG006504).",

year = "2017",

month = jul,

doi = "10.1111/bjd.15570",

language = "English (US)",

volume = "177",

pages = "319--322",

journal = "British Journal of Dermatology",

issn = "0007-0963",

publisher = "Wiley-Blackwell",

number = "1",

}

Boyden, LM, Craiglow, BG, Hu, RH, Zhou, J, Browning, J, Eichenfield, L, Lim, YL, Luu, M, Randolph, LM, Ginarte, M, Fachal, L, Rodriguez-Pazos, L, Vega, A, Kramer, D, Yosipovitch, G, Vahidnezhad, H, Youssefian, L, Uitto, J, Lifton, RP, Paller, AS, Milstone, LM & Choate, KA 2017, 'Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation', British Journal of Dermatology, vol. 177, no. 1, pp. 319-322. https://doi.org/10.1111/bjd.15570

TY - JOUR

T1 - Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

AU - Boyden, L. M.

AU - Craiglow, B. G.

AU - Hu, R. H.

AU - Zhou, J.

AU - Browning, J.

AU - Eichenfield, L.

AU - Lim, Y. L.

AU - Luu, M.

AU - Randolph, L. M.

AU - Ginarte, M.

AU - Fachal, L.

AU - Rodriguez-Pazos, L.

AU - Vega, A.

AU - Kramer, D.

AU - Yosipovitch, G.

AU - Vahidnezhad, H.

AU - Youssefian, L.

AU - Uitto, J.

AU - Lifton, R. P.

AU - Paller, A. S.

AU - Milstone, L. M.

AU - Choate, K. A.

N1 - Funding Information: Funding sources: this work was supported by NIH/NIAMS R01 AR068392 and the Yale Center for Mendelian Genomics (U54 HG006504).

PY - 2017/7

Y1 - 2017/7

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U2 - 10.1111/bjd.15570

DO - 10.1111/bjd.15570

M3 - Letter

C2 - 28403545

AN - SCOPUS:85020380717

SN - 0007-0963

VL - 177

SP - 319

EP - 322

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 1

ER -

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

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