(Q55058231)

16 June 2018

title

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). (English)

1 reference

16 June 2018

Wiedemann-Steiner syndrome

main subject

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Bryce A Mendelsohn

1

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16 June 2018

Melissa Pronold

2

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16 June 2018

Roger Long

3

1 reference

16 June 2018

Nizar Smaoui

4

1 reference

16 June 2018

Anne M Slavotinek

5

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16 June 2018

language of work or name

English

0 references

publication date

12 May 2014

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

164A

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16 June 2018

issue

8

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16 June 2018

page(s)

2079-2083

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16 June 2018

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36590

Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36590

De novo mutations in MLL cause Wiedemann-Steiner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36590

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36590

Mechanisms of mixed-lineage leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36590

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36590

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36590

1 reference

16 June 2018

1 reference

16 June 2018