(Q52894172)

9 May 2018

title

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. (English)

1 reference

9 May 2018

Peter Krawitz

2

0 references

Denise Horn

1

object named as

Denise Horn

1 reference

9 May 2018

author name string

Anca Mannhardt

3

1 reference

9 May 2018

Georg Christoph Korenke

4

1 reference

9 May 2018

Peter Meinecke

5

1 reference

9 May 2018

language of work or name

English

0 references

publication date

7 July 2011

1 reference

9 May 2018

American Journal of Medical Genetics

published in

1 reference

9 May 2018

volume

155A

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9 May 2018

issue

8

1 reference

9 May 2018

page(s)

1917-1922

1 reference

9 May 2018

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

Hyperphosphatasia with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34102

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34102

1 reference

9 May 2018

release_ubg24ncedjcunjb723w4jtu3b4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ubg24ncedjcunjb723w4jtu3b4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

21739589

1 reference

9 May 2018