一名女性新生儿患有一种严重形式的伴有线性皮肤缺损综合征的X连锁小眼症。 - Suppr

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

作者信息

Steichen-Gersdorf Elisabeth, Griesmaier Elke, Pientka Friederike K, Kotzot Dieter, Kutsche Kerstin

机构信息

Department of Pediatrics and Adolescent Medicine Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

出版信息

Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7.

DOI:10.1097/MCD.0b013e32833593b7

PMID:20179582

Abstract

摘要

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A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7.

Pseudotail as a feature of microphthalmia with linear skin defects syndrome.

Clin Dysmorphol. 2011 Apr;20(2):111-113. doi: 10.1097/MCD.0b013e328342eb66.

Microphthalmia with linear skin defects syndrome (MIDAS).

BMJ Case Rep. 2019 Apr 23;12(4):e227791. doi: 10.1136/bcr-2018-227791.

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).

Am J Med Genet A. 2009 Aug;149A(8):1698-705. doi: 10.1002/ajmg.a.32968.

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Pediatr Dermatol. 2008 Sep-Oct;25(5):548-52. doi: 10.1111/j.1525-1470.2008.00724.x.

MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities.

Clin Dysmorphol. 2009 Oct;18(4):234-5. doi: 10.1097/MCD.0b013e32832e38a6.

Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1.

J Am Acad Dermatol. 1994 Oct;31(4):680-2. doi: 10.1016/s0190-9622(08)81743-4.

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

J Med Genet. 2001 Jun;38(6):411-7. doi: 10.1136/jmg.38.6.411.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Am J Med Genet A. 2005 Aug 30;137(2):190-8. doi: 10.1002/ajmg.a.30864.

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Pediatr Dermatol. 2013 Nov-Dec;30(6):e230-1. doi: 10.1111/j.1525-1470.2012.01735.x. Epub 2012 May 21.

引用本文的文献

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263.

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53.

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Mol Vis. 2013;19:311-8. Epub 2013 Feb 6.

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

作者信息

Steichen-Gersdorf Elisabeth, Griesmaier Elke, Pientka Friederike K, Kotzot Dieter, Kutsche Kerstin

机构信息

出版信息

Clin Dysmorphol. 2010 Apr;19(2):82-84. doi: 10.1097/MCD.0b013e32833593b7.

DOI:10.1097/MCD.0b013e32833593b7

PMID:20179582

Abstract

摘要

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

作者信息

机构信息

出版信息

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A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

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