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
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
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
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
Morita M et al.
No to Hattatsu = Brain and Development, 2016
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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
Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
Verdyck P et al.
European Journal of Human Genetics : Ejhg, 2003
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