婴儿肌张力减退的鉴别诊断：脊柱后侧凸型埃勒斯-当洛综合征（EDS VI）。 - Suppr

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

作者信息

Voermans N C, van Engelen B G

出版信息

Neuromuscul Disord. 2008 Nov;18(11):906; author reply 907. doi: 10.1016/j.nmd.2008.05.016. Epub 2008 Sep 23.

DOI:10.1016/j.nmd.2008.05.016

PMID:18815038

Abstract

摘要

相似文献

Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

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Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

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Mol Genet Metab. 2005 Sep-Oct;86(1-2):269-76. doi: 10.1016/j.ymgme.2005.04.014. Epub 2005 Jun 24.

A case of Ehlers Danlos syndrome type VI.

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Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):212-24. doi: 10.1006/mgme.2000.3076.

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

Pediatr Neurol. 2014 Oct;51(4):566-9. doi: 10.1016/j.pediatrneurol.2014.06.020. Epub 2014 Jul 10.

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

Eur J Med Genet. 2017 Oct;60(10):536-540. doi: 10.1016/j.ejmg.2017.07.011. Epub 2017 Jul 27.

Type VI Ehler Danlos Syndrome.

J Assoc Physicians India. 2004 Aug;52:631.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.

Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.

Proc Assoc Am Physicians. 1997 Jul;109(4):383-96.

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Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

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Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).

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