- A case of collodion baby
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Park DI, Choi TH, Hwang JB, Han CH, Cung HL, Kwon YD
- KMID: 1690261
- J Korean Pediatr Soc.
- 1993 Jun;36(6):858-864.
This is a rare typical case of collodion baby. The patient is a one-day-old newborn male who has been suffering from the tightly collodion or parchment-like coverings over the entire... -
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- A case of acormelanosis progressiva
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Lee HS, Oh CW, Park KB
- KMID: 2231903
- Korean J Dermatol.
- 1993 Aug;31(4):624-627.
Acromelanosis progressiva is a peculiar progressive pigmentary disorder characterized by intensely dark and sharply demarcated hyperpigmentation over the dorsa of fingers and toes, and the pigmentation rapidly spread proximally. A... -
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- A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate
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Yamazaki K, Yoshino Y, Mori Y, Ochi S, Yoshida T, Ishimaru T, Ueno SI
- KMID: 2171038
- Clin Psychopharmacol Neurosci.
- 2015 Dec;13(3):324-326.
- doi: 10.9758/cpn.2015.13.3.324
Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2.... -
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- Clinical Predictors of Primary Immunodeficiency Diseases in Children
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Reda SM, El-Ghoneimy DH, Afifi HM
- KMID: 2260343
- Allergy Asthma Immunol Res.
- 2013 Mar;5(2):88-95.
- doi: 10.4168/aair.2013.5.2.88
PURPOSE: To promote awareness of primary immunodeficiency (PID), the "10 warning signs" of PID and an immunodeficiency-related (IDR) score were developed. However, their efficiency in identifying PID cases was not... -
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- Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
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Hdiji O, Turki E, Bouzidi N, Bouchhima , Damak M, Bohlega S, Mhiri C
- KMID: 2308787
- J Mov Disord.
- 2016 May;9(2):120-123.
- doi: 10.14802/jmd.16003
Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited... -
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- Association of CYP2C9 Genetic Variants with Vitiligo
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Alzolibani AA, Al Robaee , Al-Shobaili H, Al-Saif F, Al-Mekhadab E, Settin AA
- KMID: 2368155
- Ann Dermatol.
- 2014 Jun;26(3):343-348.
BACKGROUND: Vitiligo is a depigmenting skin disorder in which genetic factors play an important role. OBJECTIVE: To examine the association of CYP2C9 *1/*2/*3 gene polymorphism with vitiligo. METHODS: In this case controlled... -
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- Congenital Chloride Diarrhea in 5 Korean Infants
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Rhie DH, Bae SH, Choi JE, Yun BY, Son DW, Shin CH, Park KH, Ko JS, Seo JK
- KMID: 2207461
- J Korean Pediatr Soc.
- 2000 Nov;43(11):1465-1472.
PURPOSE: Congenital chloride diarrhea(CLD) is an autosomal recessive disease characterized by life-long watery diarrhea of prenatal onset with high fecal Cl concentration. Recent studies have revealed that the protein product of the... -
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- Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
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Jeong HB, Hwang SH, Kim KJ, Hwang YS, Kim SC, Kim IO
- KMID: 2011658
- J Korean Pediatr Soc.
- 1997 Mar;40(3):385-392.
PURPOSE: Joubert syndrome is known to be an autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and... -
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- Multiple Neurofibromatosis Manifesting Autosomal Dominant Ingeritance in a Single Family
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Kim YP, Hwang IK
- KMID: 1664656
- Korean J Dermatol.
- 1976 Sep;14(3):239-245.
Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal... -
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