Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1436-3771

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant ; day:7 ; month:2 ; year:2020 ; pages:1-7
Clinical oral investigations ; (7.2.2020), 1-7

Creator: Lepperdinger, Ulrike
Maurer, Elisabeth
Witsch-Baumgartner, Martina
Stigler, Robert
Zschocke, Johannes
Lussi, Adrian
Kapferer-Seebacher, Ines

Contributor: SpringerLink (Online service)

DOI: 10.1007/s00784-020-03222-7

URN: urn:nbn:de:101:1-2020050821495349584749

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:51 AM CEST

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Associated

Lepperdinger, Ulrike
Maurer, Elisabeth
Witsch-Baumgartner, Martina
Stigler, Robert
Zschocke, Johannes
Lussi, Adrian
Kapferer-Seebacher, Ines
SpringerLink (Online service)

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Expanding the clinical phenotype of IARS2-related mitochondrial disease

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Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

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Other Objects (12)

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Expanding TBCE-related phenotype—novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia

Osteogenesis imperfecta type XVII: expansion of the phenotype

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies

Expanding ACMG variant classification guidelines into a general framework

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Expanding TBCE-related phenotype—novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia

Osteogenesis imperfecta type XVII: expansion of the phenotype

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies

Expanding ACMG variant classification guidelines into a general framework

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Expanding TBCE-related phenotype—novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia

Osteogenesis imperfecta type XVII: expansion of the phenotype

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies

Expanding ACMG variant classification guidelines into a general framework

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

Expanding the clinical phenotype of IARS2-related mitochondrial disease

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