Results 141 to 150 of about 18,146 (216)

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report. [PDF]

J Int Med Res
Lixiang W, Xianghong L, Lexia Y, Hongmin X, Liangliang L.   +4 more
europepmc   +1 more source

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by <i>AP1S1</i> and <i>AP1B1</i> mutations. [PDF]

Front Neurol
Wu R, Luo X, Wang XP.
europepmc   +1 more source

Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review. [PDF]

Pharmaceuticals (Basel)
Oliveira BA, Torres A, Ricci-Júnior E, Almeida IF, Monteiro MSSB.   +4 more
europepmc   +1 more source

A Seven-year-old Girl with Exfoliative Erythroderma: A Quiz. [PDF]

Acta Derm Venereol
Trinh NB, Tran GH.
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

Mirror Movements and Ichthyosis in a Child: A Rare Presentation of Kallmann Syndrome. [PDF]

Ann Indian Acad Neurol
Vachher H, Gandhi D, Pachapure S, Kamate M.   +3 more
europepmc   +1 more source

A Case of Myxedema Coma in a 48-Year-Old Female Presenting With Altered Mental Status Post-trauma. [PDF]

Cureus
Gurumoorthy RB, Gonzales L.
europepmc   +1 more source

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing. [PDF]

Cureus
Phipps J, Popescu O.
europepmc   +1 more source

Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis. [PDF]

Indian Dermatol Online J
Tandon S, Muthyala R, Bhalla D, Yenamandra VK.   +3 more
europepmc   +1 more source