Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Fevre A Le; Julia Baptista; Sian Ellard; Timothy Overton; Ann Oliver; Elise Gradhand; Ingrid Scurr

doi:10.1016/j.ejmg.2019.04.014

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Fevre A Le
, Julia Baptista
, Sian Ellard
, Timothy Overton
, Ann Oliver
, Elise Gradhand
, Ingrid Scurr^*

^*Corresponding author for this work

Peninsula Medical School

Royal Devon & Exeter NHS Foundation Trust
University of Exeter
St. Michael's Hospital
University Hospitals Bristol and Weston NHS Foundation Trust
North Bristol NHS Trust

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

Original language	English
Pages (from-to)	103657-103657
Number of pages	0
Journal	European Journal of Medical Genetics
Volume	63
Issue number	2
DOIs	https://doi.org/10.1016/j.ejmg.2019.04.014
Publication status	Published - Feb 2020

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Access to Document

10.1016/j.ejmg.2019.04.014

Cite this

@article{b5edd230a6c64c959a0e7929c0d8514e,

title = "Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd",

author = "Le, \{Fevre A\} and Julia Baptista and Sian Ellard and Timothy Overton and Ann Oliver and Elise Gradhand and Ingrid Scurr",

year = "2020",

month = feb,

doi = "10.1016/j.ejmg.2019.04.014",

language = "English",

volume = "63",

pages = "103657--103657",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson s.r.l.",

number = "2",

}

TY - JOUR

T1 - Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

AU - Le, Fevre A

AU - Baptista, Julia

AU - Ellard, Sian

AU - Overton, Timothy

AU - Oliver, Ann

AU - Gradhand, Elise

AU - Scurr, Ingrid

PY - 2020/2

Y1 - 2020/2

U2 - 10.1016/j.ejmg.2019.04.014

DO - 10.1016/j.ejmg.2019.04.014

M3 - Article

SN - 1769-7212

VL - 63

SP - 103657

EP - 103657

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 2

ER -