Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth format...
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, non...
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects refl...
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfe...
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disord...
WOS: 000458956100004PubMed ID: 30506946Amelogenesis imperfecta (AI) is a collection of isolated (non...
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. Amelogenesis imperfecta ...
We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature e...
BackgroundTruncation FAM83H mutations cause human autosomal dominant hypocalcified amelogenesis impe...
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental en...
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective...
Objectives: Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM #190320), a systemic cond...
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnorm...
Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel for...
Objective To identify the molecular genetic aetiology of a family with autosomal dominant amelogenes...
Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of ...
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, non...
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects refl...
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfe...
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disord...
WOS: 000458956100004PubMed ID: 30506946Amelogenesis imperfecta (AI) is a collection of isolated (non...
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. Amelogenesis imperfecta ...
We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature e...
BackgroundTruncation FAM83H mutations cause human autosomal dominant hypocalcified amelogenesis impe...
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental en...
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective...
Objectives: Variants in DLX3 cause tricho‐dento‐osseous syndrome (TDO, MIM #190320), a systemic cond...
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnorm...
Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel for...
Objective To identify the molecular genetic aetiology of a family with autosomal dominant amelogenes...
Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of ...
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, non...
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects refl...
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfe...