183 related articles for article (PubMed ID: 24696032)
21. Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
Hettiarachchi D; Panchal H; Lai PS; Dissanayake VHW
BMC Med Genet; 2020 Aug; 21(1):164. PubMed ID: 32819291
[TBL] [Abstract][Full Text] [Related]
22. Optic nerve findings in CHILD syndrome.
Knape RM; Gandhi KB; Tuli SY; Khuddus N
J Pediatr Ophthalmol Strabismus; 2010 Sep; 47 Online():e1-3. PubMed ID: 20886807
[TBL] [Abstract][Full Text] [Related]
23. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
Seeger MA; Paller AS
Biochim Biophys Acta; 2014 Mar; 1841(3):345-52. PubMed ID: 24060582
[TBL] [Abstract][Full Text] [Related]
24. Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
Getz GI; Parag-Sharma K; Reside J; Padilla RJ; Amelio AL
Oral Surg Oral Med Oral Pathol Oral Radiol; 2019 Jul; 128(1):60-69. PubMed ID: 31078502
[TBL] [Abstract][Full Text] [Related]
25. Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Quiz.
Lelonek E; Matusiak Ł; Bieniek A; Szepietowski JC
Acta Derm Venereol; 2016 Nov; 96(7):1004-1008. PubMed ID: 26832123
[No Abstract] [Full Text] [Related]
26. CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.
Tang MM; Tan WC; Surana U; Leong KF; Pramano ZAD
Int J Dermatol; 2021 Apr; 60(4):e154-e156. PubMed ID: 33169834
[No Abstract] [Full Text] [Related]
27. CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India.
Chander R; Varghese B; Jabeen M; Garg T; Jain M
Dermatol Online J; 2010 Aug; 16(8):6. PubMed ID: 20804683
[TBL] [Abstract][Full Text] [Related]
28. Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl.
Armina S; Heiko T; Rudolf H; Judith F; Dimitra K; Peter S
J Dtsch Dermatol Ges; 2020 Sep; 18(9):1054-1057. PubMed ID: 32515052
[No Abstract] [Full Text] [Related]
29. A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
Saito M; Ishiko A
Br J Dermatol; 2008 Nov; 159(5):1204-6. PubMed ID: 18764845
[No Abstract] [Full Text] [Related]
30. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Tan EC; Chia SY; Rafi'ee K; Lee SX; Kwek ABE; Tan SH; Ng VWL; Wei H; Koo S; Koh AL; Koh MJ
Mol Genet Genomic Med; 2022 Jan; 10(1):e1848. PubMed ID: 34957706
[TBL] [Abstract][Full Text] [Related]
31. Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D; König A; Happle R; Leveleki L; Bittar M; Danarti R; Vahlquist A; Tilgen W; Reinhold U; Poiares Baptista A; Grosshans E; Vabres P; Niiyama S; Sasaoka K; Tanaka T; Meiss AL; Treadwell PA; Lambert D; Camacho F; Grzeschik KH
J Med Genet; 2005 Feb; 42(2):e17. PubMed ID: 15689440
[No Abstract] [Full Text] [Related]
32. A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.
Kusakabe M; Nagai M; Nakano E; Jitsukawa O; Nishigori C; Yamanishi K
Acta Derm Venereol; 2017 Mar; 97(3):397-398. PubMed ID: 27868142
[No Abstract] [Full Text] [Related]
33. Multiple verruciform xanthomas in the setting of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome.
Xu XL; Huang LM; Wang Q; Sun JF
Pediatr Dermatol; 2015; 32(1):135-7. PubMed ID: 24147604
[TBL] [Abstract][Full Text] [Related]
34. Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome.
Kurban M; Abbas O; Ghosn S; Kibbi AG
Pediatr Dermatol; 2010; 27(5):551-3. PubMed ID: 20796237
[TBL] [Abstract][Full Text] [Related]
35. Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.
Murase C; Takeichi T; Sugiura K; Kobayashi M; Shiomi K; Ikebuchi K; Tsutsumi Y; Akiyama M
J Dermatol; 2018 Nov; 45(11):e303-e304. PubMed ID: 29722424
[No Abstract] [Full Text] [Related]
36. Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.
Chou P; Lee M; Elsensohn A
Cutis; 2024 Mar; 113(3):118-124. PubMed ID: 38648589
[No Abstract] [Full Text] [Related]
37. Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.
Kallis P; Bisbee E; Garganta C; Schoch JJ
Pediatr Dermatol; 2022 Jan; 39(1):151-152. PubMed ID: 34787337
[TBL] [Abstract][Full Text] [Related]
38. [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
Jing F; Yang D; Chen T; Liang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec; 33(6):878-882. PubMed ID: 27984627
[TBL] [Abstract][Full Text] [Related]
39. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
König A; Happle R; Fink-Puches R; Soyer HP; Bornholdt D; Engel H; Grzeschik KH
J Am Acad Dermatol; 2002 Apr; 46(4):594-6. PubMed ID: 11907515
[TBL] [Abstract][Full Text] [Related]
40. Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.
Cho SK; Ashworth LD; Goldman S
Int J Pharm Compd; 2020; 24(5):367-369. PubMed ID: 32886633
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]