Associated Papers
A rare homozygous ALX4 mutation in a Bangladeshi girl with frontonasal dysplasia type-2 (FND2).
Goswami B et al.
Heliyon, 2024
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
De novo ALX4 variant detected in child with non-syndromic craniosynostosis.
Fonteles CS et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2021
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.
Deng L et al.
National Science Review, 2019
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
Morita M et al.
No to Hattatsu = Brain and Development, 2016
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A et al.
American Journal of Medical Genetics. Part A, 2014
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N et al.
Journal of Medical Genetics, 2012
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
Mavrogiannis LA et al.
European Journal of Human Genetics : Ejhg, 2006
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