- A Case of Chromosome Anomaly with 46,XY,del(15)(p12), Phenotypically Presenting Smith-Lemli-Opitz Syndrome
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Lee CH, Lee JS, Kim PK
- KMID: 2254852
- Korean J Nephrol.
- 1997 Jun;16(2):361-364.
Smith-Lemli-Opitz syndrome is characterized by unusual facies, microcephaly, mental and growth retardation, skeletal and genitourinary malformations. We present a 10-year old boy who visited us with chief complaints of urinary... -
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- A Case of Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome
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Kim SJ, Jeong JH, Cho SM
- KMID: 1606471
- J Korean Pediatr Soc.
- 2001 Sep;44(9):1047-1051.
Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial... -
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- Intranasal teeth in a 3-year-old child with Smith-Lemli-Opitz syndrome
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Shim SH
- KMID: 2470516
- Oral Biol Res.
- 2019 Dec;43(4):361-364.
- doi: 10.21851/obr.43.04.201912.361
Smith–Lemli–Opitz syndrome (SLOS) is a rare autosomal recessive genetic disorder accompanied with congenital anomalies and mental impairment. Clefts of the hard and/or soft palate, small tongue, broad alveolar ridges, and... -
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- A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea
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Oh MY, Kim JS, Kim JH, Cho JH, Lee BH, Kim GH, Choi JH, Yoo HW
- KMID: 2184500
- J Genet Med.
- 2014 Dec;11(2):86-90.
- doi: 10.5734/JGM.2014.11.2.86
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations,... -
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- Clinical Observation on Intersexuality
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Kim CS, Kim SW, Choi H
- KMID: 1911896
- Korean J Urol.
- 1986 Feb;27(1):152-158.
During the last 6.5 years 49 patients with inter sex were managed at the Department of Urology, Seoul National University Hospital. The median age was 8.8 years (from 2 months... -
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- A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
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Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW
- KMID: 1713850
- J Korean Med Sci.
- 2010 Jan;25(1):159-162.
- doi: 10.3346/jkms.2010.25.1.159
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported... -
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- A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
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Park MR, Ko JM, Cheon CK, Kim GH, Yoo HW
- KMID: 2280251
- Korean J Pediatr.
- 2008 Nov;51(11):1236-1240.
- doi: 10.3345/kjp.2008.51.11.1236
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of... -
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