Results 131 to 140 of about 5,642 (200)

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. [PDF]

Int J Clin Pediatr Dent
D'Souza OK, Dukle SG, Naik R, de Ataide IN.   +3 more
europepmc   +1 more source

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions [PDF]

, 2017
Barta, Endre, Fésüs, László, Király, Róbert   +2 more
core   +1 more source

Mfsd2a is important for maintaining epidermal homeostasis. [PDF]

Proc Natl Acad Sci U S A
Wong BH, Mishra K, Chin CF, Galam DLA, Tan BC, Ding M, Torta F, Behmoaras J, Chua AWC, Silver DL.   +9 more
europepmc   +1 more source

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad. [PDF]

Medicine (Baltimore)
Al-Bustanji R, AlRababah BK, Rumman MSA, Abukhaled Y, Al-Rabadi N, Younis HKB, Ghalyon G, Al-Tawalbeh S, Aloudat O, Alrashdan MMM, Yamin MT, Maaita M, Salah AKD, Satari A.   +13 more
europepmc   +1 more source

Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]

, 2013
Uitto, Jouni
core   +1 more source

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]

Clin Case Rep
Nagshabandi KN, Alsalhi A.
europepmc   +1 more source

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]

Clin Case Rep
Dababseh BH, Ghnimat AS, AbuHamdiya LW, Atatre MH, Batran A, Suboh MW.   +5 more
europepmc   +1 more source

Genetic Heterogeneity in Lamellar Ichthyosis

Journal of Investigative Dermatology, 1996
Hohl, Daniel, Huber, Marcel
openaire   +1 more source

Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link. [PDF]

JAAD Case Rep
Han JY, Vallerand IA, Shah A, Schneider MM, Robertson LH.   +4 more
europepmc   +1 more source