Acromesomelic dysplasia, Maroteaux type

Definition

Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.

References:

[1]. Alistair N Hume, et al. Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. Hum Mol Genet. 2009 Jan 15;18(2):267-77. [Content Brief]

[2]. Cynthia F Bartels, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004 Jul;75(1):27-34. [Content Brief]

[3]. Rumi Hachiya, et al. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. J Clin Endocrinol Metab. 2007 Oct;92(10):4009-14. [Content Brief]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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