A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. (Q43707344)

26 November 2017

title

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. (English)

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26 November 2017

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Bassam Ali

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Lihadh Al Gazali

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26 November 2017

Nadia Akawi

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26 November 2017

publication date

20 May 2013

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Birth Defects Research Part A: Clinical and Molecular Teratology

26 November 2017

published in

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26 November 2017

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26 November 2017

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26 November 2017

page(s)

456-462

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

26 November 2017

cites work

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Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients

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Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

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Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

21 January 2018

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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

21 January 2018

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Natural course of neonatal progeroid syndrome

21 January 2018

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Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts

21 January 2018

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21 January 2018

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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

21 January 2018

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Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome.

21 January 2018

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21 January 2018

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Previously unrecognized congenital progeroid disorder.

21 January 2018

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Hutchinson-Gilford progeria syndrome

21 January 2018

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Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

21 January 2018

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Progeria: A cell culture study and clinical report of familial incidence

21 January 2018

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21 January 2018

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An unidentified neonatal progeroid syndrome: follow-up report

21 January 2018

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Clinical aspects and molecular diagnostics of skin aging

21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/BDRA.23136

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26 November 2017

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