Novel homozygousALX4mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele-Reference-Cited by-同舟云学术

Novel homozygousALX4mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele

Published:2015-05-11 Issue:6 Volume:88 Page:593-596
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Meloni V.A.¹,Moysés-Oliveira M.¹,Melo M.C.C.²,Caneloi T.P.¹,Dantas A.G.¹,Soares M.F.F.³,Fock R.¹,Rodrigues de Nicola P.D.¹,Dias-da-Silva M.R.²,Melaragno M.I.¹

Affiliation:

1. Department of Morphology and Genetics, Genetics Division; Universidade Federal de São Paulo; São Paulo Brazil

2. Department of Medicine, Division of Endocrinology; Universidade Federal de São Paulo; São Paulo Brazil

3. Department of Imaging Diagnosis; Universidade Federal de São Paulo; São Paulo Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects;Mavrogiannis;Nat Genet,2001

2. Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation;Bertola;Am J Med Genet,2013

3. Mild nasal clefting may be predictive for ALX4 heterozygotes;Altunoglu;Am J Med Genet,2014

4. Skull defects, alopecia and distinctive facies: a new syndrome?;Kariminejad;Clin Dysmorphol,2008

5. ALX4 dysfunction disrupts craniofacial and epidermal development;Kayserili;Hum Mol Genet,2009

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1. A rare homozygous ALX4 mutation in a Bangladeshi girl with frontonasal dysplasia type-2 (FND2);Heliyon;2024-08

2. Cleft 1/13;Facial Reconstruction of Unusual Facial Clefts;2023

3. Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2;American Journal of Medical Genetics Part A;2018-04-21