Results 151 to 160 of about 11,397 (216)

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery. [PDF]

Clin Cosmet Investig Dermatol
Ghaznavi A, Borooghani H, Pahlevan Sabagh A, Aghajanlou T.   +3 more
europepmc   +1 more source

Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot. [PDF]

Hum Genome Var
Kumar S, Ahmed S, Incardona P, Cesarato N, Zhang Y, Natale MI, Khan MJ, Valinotto L, Ullah K, Ahmad W, Irurzun I, Krawitz PM, Liang B, Betz RC.   +13 more
europepmc   +1 more source

Bilateral Optic Disc Edema Secondary to Severe Vitamin A Deficiency: A Rare Cause of Acute Vision Loss. [PDF]

Case Rep Ophthalmol
Markowitz DM, Silverman RF, Colwell L, Wibbelsman TD, Pericic DJ, Harish S, Thornton S.   +6 more
europepmc   +1 more source

ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients. [PDF]

Front Neurosci
Yang Q, Zhang Q, Zhou X, Yi S, Qin Z, Yi S, He S, Luo J.   +7 more
europepmc   +1 more source

Alezzandrini syndrome mimicking shingles - A rare case report with review of literature.

Oman J Ophthalmol
Singh M, Kumari R, Onkar A, Das S, Pal T, Saha BC.   +5 more
europepmc   +1 more source

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent <i>RECQL4</i> variant. [PDF]

Front Pediatr
Armas Samaniego MI, Briones Vasquez M, Mariño Zambrano M, Romero VI, Melo K, Pozo-Palacios JC.   +5 more
europepmc   +1 more source

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating <i>KMT2A</i> Variant: Clinical and Genetic Correlations. [PDF]

Reports (MDPI)
Sokolova T, Ivanov H, Panova M, Sotkova-Ivanova I, Stoyanova V.   +4 more
europepmc   +1 more source

A New Classification of Dermatochalasis, the Effect of This Classification and Blepharoplasty Surgery on the Visual Field. [PDF]

Eurasian J Med
Dertsiz Kozan B.
europepmc   +1 more source

Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report. [PDF]

Am J Case Rep
Alsaggaf K, Jomar DE, Al-Swailem SA.
europepmc   +1 more source

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report. [PDF]

Dermatol Reports
Alwunais K, Alqahtani J, Aljalfan A, Alotaibi H.   +3 more
europepmc   +1 more source