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Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly.

作者信息

Arora Sandeep, Roy Shuvendu, Arora Divya, Patil Chetan, Jain Arun Kumar

机构信息

Department of Dermatology, Army College of Medical Sciences, Base Hospital, New Delhi, India. E-mail:

Department of Paediatrics, Army Hospital Research and Referral, New Delhi, India.

出版信息

Indian J Dermatol. 2017 Sep-Oct;62(5):549. doi: 10.4103/ijd.IJD_613_16.

DOI:10.4103/ijd.IJD_613_16

PMID:28979034

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5618859/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1ce/5618859/6243059c324a/IJD-62-549a-g001.jpg

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Jordans' anomaly in Chanarin-Dorfman syndrome.

Adv Lab Med. 2024 Nov 18;6(1):118-121. doi: 10.1515/almed-2024-0159. eCollection 2025 Mar.

[Not Available].

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本文引用的文献

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.

J Postgrad Med. 2014 Jul-Sep;60(3):332-4. doi: 10.4103/0022-3859.138826.

Beneficial effect of acitretin in Chanarin-Dorfman syndrome.

Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10.

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Orphanet J Rare Dis. 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33.

Dorfman-Chanarin syndrome.

Indian J Dermatol Venereol Leprol. 2007 Jan-Feb;73(1):36-9. doi: 10.4103/0378-6323.30650.

The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

Acta Med Scand. 1953;145(6):419-23. doi: 10.1111/j.0954-6820.1953.tb07038.x.

Comments on Jordans' anomaly.

Indian J Pediatr. 2000 Sep;67(9):703. doi: 10.1007/BF02762190.

Neutral lipid storage disease--response to dietary intervention.

Arch Dis Child. 1997 Aug;77(2):184. doi: 10.1136/adc.77.2.183c.

Ichthyosiform dermatosis with systemic lipidosis.

Arch Dermatol. 1974 Aug;110(2):261-6.

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相似文献

Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly.

Indian J Dermatol. 2017 Sep-Oct;62(5):549. doi: 10.4103/ijd.IJD_613_16.

Jordan's anomaly in a case of Chanarin-Dorfman syndrome.

Br J Haematol. 2011 Nov;155(4):412. doi: 10.1111/j.1365-2141.2011.08780.x. Epub 2011 Jun 21.

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.

Acta Paediatr. 2010 Oct;99(10):1592-4. doi: 10.1111/j.1651-2227.2010.01869.x.

Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report.

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Rickets with Dorfman-Chanarin syndrome.

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引用本文的文献

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.

Cureus. 2025 Aug 14;17(8):e90102. doi: 10.7759/cureus.90102. eCollection 2025 Aug.

Jordans' anomaly in Chanarin-Dorfman syndrome.

Adv Lab Med. 2024 Nov 18;6(1):118-121. doi: 10.1515/almed-2024-0159. eCollection 2025 Mar.

[Not Available].

Adv Lab Med. 2024 Jul 26;6(1):122-125. doi: 10.1515/almed-2024-0073. eCollection 2025 Mar.

本文引用的文献

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.

J Postgrad Med. 2014 Jul-Sep;60(3):332-4. doi: 10.4103/0022-3859.138826.

Beneficial effect of acitretin in Chanarin-Dorfman syndrome.

Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10.

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

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Acta Med Scand. 1953;145(6):419-23. doi: 10.1111/j.0954-6820.1953.tb07038.x.

Comments on Jordans' anomaly.

Indian J Pediatr. 2000 Sep;67(9):703. doi: 10.1007/BF02762190.

Neutral lipid storage disease--response to dietary intervention.

Arch Dis Child. 1997 Aug;77(2):184. doi: 10.1136/adc.77.2.183c.

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Arch Dermatol. 1974 Aug;110(2):261-6.