Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination (Q24336543)

cellular response to oxidative stress

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Anna Rajab

4

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Kyriacos Markianos

object named as

Kyriacos Markianos

20

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Ganeshwaran H Mochida

22

object named as

Ganeshwaran H Mochida

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Annapurna Poduri

21

object named as

Annapurna Poduri

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author name string

Tojo Nakayama

1

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Almundher Al-Maawali

2

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Malak El-Quessny

3

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Samir Khalil

5

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Joan M Stoler

6

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Wen-Hann Tan

7

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Ramzi Nasir

8

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Klaus Schmitz-Abe

9

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R Sean Hill

10

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Jennifer N Partlow

11

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Muna Al-Saffar

12

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Sarah Servattalab

13

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Christopher M LaCoursiere

14

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Dimira E Tambunan

15

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Michael E Coulter

16

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Princess C Elhosary

17

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Grzegorz Gorski

18

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A James Barkovich

American Journal of Human Genetics

19

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language of work or name

English

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publication date

7 May 2015

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published in

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volume

96

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page(s)

709-19

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issue

5

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Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

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https://pubmed.ncbi.nlm.nih.gov/25865492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25865492

inferred from PubMed ID database lookup

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The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25865492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.03.003

1 reference

3550129

3550129

1 reference

1 reference

1 reference