Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

Alexandros Onoufriadis; Arti Nanda; Adam Sheriff; Kenji Tomita; Nesrin S. Gomaa; Michael A. Simpson; John A. McGrath

doi:10.1001/jamadermatol.2018.4665

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

Alexandros Onoufriadis, Arti Nanda, Adam Sheriff, Kenji Tomita, Nesrin S. Gomaa, Michael A. Simpson, John A. McGrath^*

^*Corresponding author for this work

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

4 Citations (Scopus)

Original language	English
Pages (from-to)	257-259
Number of pages	3
Journal	JAMA dermatology
Volume	155
Issue number	2
Early online date	26 Dec 2018
DOIs	https://doi.org/10.1001/jamadermatol.2018.4665
Publication status	Published - 1 Feb 2019

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title = "Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)",

author = "Alexandros Onoufriadis and Arti Nanda and Adam Sheriff and Kenji Tomita and Gomaa, {Nesrin S.} and Simpson, {Michael A.} and McGrath, {John A.}",

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AU - Onoufriadis, Alexandros

AU - Nanda, Arti

AU - Sheriff, Adam

AU - Tomita, Kenji

AU - Gomaa, Nesrin S.

AU - Simpson, Michael A.

AU - McGrath, John A.

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JO - JAMA dermatology

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IS - 2

ER -

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

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