(Q52621434)

4 May 2018

title

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). (English)

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4 May 2018

author

Frances J. Sharom

6

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4 May 2018

Peter Robinson

10

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4 May 2018

Peter Krawitz

object named as

Peter Krawitz

11

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Han G. Brunner

14

object named as

Han G Brunner

1 reference

4 May 2018

author name string

Miles D Thompson

1

1 reference

4 May 2018

Tony Roscioli

2

1 reference

4 May 2018

Carlo Marcelis

3

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4 May 2018

Marjan M Nezarati

4

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4 May 2018

Irene Stolte-Dijkstra

5

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4 May 2018

Peihua Lu

7

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4 May 2018

John A Phillips

8

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4 May 2018

Elizabeth Sweeney

9

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4 May 2018

Helger G Yntema

12

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4 May 2018

Danielle M Andrade

13

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4 May 2018

David E C Cole

15

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4 May 2018

language of work or name

English

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publication date

7 February 2012

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

158A

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4 May 2018

issue

3

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4 May 2018

page(s)

553-558

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4 May 2018

Mental retardation, cataracts, and unexplained hyperphosphatasia

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

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.35202

Hyperphosphatasia with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

Familial hyperphosphatasia with mental retardation, seizures, and neurologic deficits

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

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.35202

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

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.35202

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35202

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.35202

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35202

1 reference

4 May 2018

PubMed ID

22315194

1 reference

4 May 2018