Results 131 to 140 of about 50,126 (168)

A rare association of monocular elevation deficiency and goldenhar syndrome secondary to vascular insufficiency: A case report. [PDF]

Int J Surg Case Rep
Singh A, Shukla P, Khurana M, Sherwani P, Kumar B.   +4 more
europepmc   +1 more source

Modified Lower Eyelid Retractor Relocation: A More Reliable Surgical Approach for Epiblepharon. [PDF]

Plast Reconstr Surg Glob Open
Oyama T, Oyama M, Tazawa A, Fukuchi T.
europepmc   +1 more source

Subcutaneous Eyelid Dirofilariasis Masquerading as an Eyelid Tumor: A Rare Case Report and Literature Review. [PDF]

Cureus
Raja AM, Marappan H.
europepmc   +1 more source

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing. [PDF]

Int J Mol Sci
Antal G, Zsigmond A, Till Á, Szabó A, Maász A, Bene J, Hadzsiev K.   +6 more
europepmc   +1 more source

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing. [PDF]

J Clin Med
Marszałek-Kruk BA, Dowgierd K, Lejawa M, Kulesa-Mrowiecka M, Wolański W, Myśliwiec A, Lipowicz A.   +6 more
europepmc   +1 more source

A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature Review. [PDF]

Genes (Basel)
Chauhan M, Rickels KL, Kurup SP, Bohnsack BL, Ing A, Drackley A, Goetsch Weisman A, Allegreti V, Yap K, Rathbun P, Skol A, McMullen P, Ralay Ranaivo H, Rossen JL.   +13 more
europepmc   +1 more source

Case Report: A novel heterozygous variant of the <i>TCOF1</i> gene in Treacher Collins syndrome. [PDF]

Front Pediatr
Zhang L, Wang F, Zhu Y, Zhang H, Liu Y.
europepmc   +1 more source

Distribution of Port-Wine Birthmarks and Glaucoma Outcomes in Sturge-Weber Syndrome. [PDF]

Ophthalmol Glaucoma
Vu DM, Gjerde H, Elhusseiny AM, Oke I, VanderVeen DK.   +4 more
europepmc   +1 more source

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

Fluri R, Coll-Tané M, Brunet T, Cogne B, Conrad S, Nizon M, Nicita F, Travaglini L, Novelli A, Glissmeyer M, Peterson A, Buchan JG, Serber D, Meier K, Gärtner J, Diegmann S, Pingault V, Attie-Bitach T, Courtin T, Schneider MC, Hung W, Sahai I, O’Grady L, Steindl K, Mehta SG, Depienne C, Heron D, Keren B, Heide S, McKee S, Laccone F, Dyer LM, Melver C, Motter C, Jones WD, Wilson ZT, Vats D, Huß K, Zweier C, Sticht H, Gregor A.   +40 more
europepmc   +1 more source

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization. [PDF]

Orphanet J Rare Dis
Chen Y, Yang R, Chen X, Zhang T, Li C, Ma J.   +5 more
europepmc   +1 more source