Results 151 to 160 of about 6,541 (219)

Expanding the Clinical Spectrum of KIDAR Syndrome: A Case of Multisystemic Involvement in a Palestinian Child with AP1B1 Deficiency. [PDF]

Sage Open Pediatr
Issa K, Dawoud AMY, Khader ZWR, Alem A, Abulail MSZ, Shakhshir A, Dawoud RWJ.   +6 more
europepmc   +1 more source

Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy [PDF]

, 2016
Castelletti, S, Kelsell, DP, Maruthappu, T, McKenna, WJ, O'Toole, E, Posafalvi, A, Syrris, P   +6 more
core  

Identification of a KRT9 gene variant and preimplantation genetic diagnosis in a Chinese family with KRT9-palmoplantar epidermal differentiation disorder. [PDF]

Hereditas
Lin D, Lin N, Zhou Y, Li Q, Ma Y.
europepmc   +1 more source

Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab. [PDF]

JAAD Case Rep
Zaino M, Jones J, Hu R, Choate K, Callen JP, Schadt CR.   +5 more
europepmc   +1 more source

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Case Report: Severe palmoplantar hyperkeratosis and pain four months post-tepotinib initiation: A hand-foot skin reaction. [PDF]

JAAD Case Rep
Laferté C, Lemieux A.
europepmc   +1 more source

A Child with Bilaterally Symmetrical Papulosquamous Lesions. [PDF]

Indian Dermatol Online J
Saha A, Maiti S, Bashir S.
europepmc   +1 more source

Atypical presentation of DRESS/DiHS mimicking an acquired ichthyosis: A case report of bortezomib-induced severe erythroderma in multiple myeloma. [PDF]

SAGE Open Med Case Rep
Lu C, Belmesk L, Bélisle A, Masse MS, Ouellette S, Cote B.   +5 more
europepmc   +1 more source

Painful fissured plaques on the palms and soles in a patient with chronic myeloid leukemia. [PDF]

JAAD Case Rep
Shet PA, Sompayrac A, Patel JD, Dahle SE, Isseroff RR.   +4 more
europepmc   +1 more source