A novel mutation in <i>PTHLH</i> in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.

Scheffer-Rath, Mirjam E A; Veenstra-Knol, Hermine E; Boot, Annemieke M

A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.

Scheffer-Rath, Mirjam E A; Veenstra-Knol, Hermine E; Boot, Annemieke M.

Afiliação

Scheffer-Rath MEA; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
Veenstra-Knol HE; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
Boot AM; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.

Bone Rep ; 19: 101699, 2023 Dec.

Article em En | MEDLINE | ID: mdl-37501674

Palavras-chave

Brachydactyly type E; Developmental delay; Disproportionate short stature; PTH-related peptide; PTHLH

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Bone Rep Ano de publicação: 2023 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Bone Rep Ano de publicação: 2023 Tipo de documento: Article