Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. (Q53339830)

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24 February 2020

title

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations (English)

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17

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Julien Thevenon

18

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Emmanuel Jacquemin

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5

Jean-Marc Phelip

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author name string

Jean-Benoît Courcet

1

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Anne Minello

2

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Fabienne Prieur

3

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Laurent Morisse

4

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Alain Beurdeley

6

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Daniel Meynard

7

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Denis Massenet

8

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Flore Lacassin

9

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Yannis Duffourd

10

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Nadège Gigot

11

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Judith St-Onge

12

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Patrick Hillon

13

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Claire Vanlemmens

14

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Christiane Mousson

15

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Jean-Pierre Cerceuil

16

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Christel Thauvin-Robinet

19

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Jean-Baptiste Rivière

21

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Laurence Michel-Calemard

22

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Laurence Faivre

23

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language of work or name

English

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publication date

8 September 2015

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American Journal of Medical Genetics

24 February 2020

published in

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volume

167A

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issue

12

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page(s)

3046-3053

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Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

24 February 2020

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Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease

21 January 2018

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PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

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Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

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Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease

21 January 2018

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Next-generation sequencing demands next-generation phenotyping

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A new set of classifications for ductal plate malformations

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A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis

21 January 2018

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Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis

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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

21 January 2018

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Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

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A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37352

1 reference

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24 February 2020

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