Results 121 to 130 of about 10,524 (180)

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane. [PDF]

BMC Ophthalmol
Meng B, Cui M, Ji A.
europepmc   +1 more source

Ocular Findings in Siblings With Alagille Syndrome: A Report of Two Cases. [PDF]

Cureus
Murati Calderon RA, Menendez Sepulveda JA, Izquierdo N.   +2 more
europepmc   +1 more source

Bilateral congenital macular coloboma: a case report. [PDF]

Am J Transl Res
Feng C, Li H.
europepmc   +1 more source

<i>PAX2</i>-Associated Kidney Dysplasia and Podocyte Injury: 2 Faces of a Monogenic Disorder. [PDF]

Kidney Int Rep
Kohl S, Liebau MC.
europepmc   +1 more source

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity. [PDF]

Cureus
Amanallah MR, Chraa M, Louhab N, Balili K.   +3 more
europepmc   +1 more source

The outcome of uveal coloboma patients undergoing manual small incision cataract surgery and intraocular lens implantation. [PDF]

Oman J Ophthalmol
Dhande PP, Ahuja NV, Shah NS.
europepmc   +1 more source

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review. [PDF]

BMC Pediatr
Wu J, Huang Z, Zhu B, Zou R, Tan Y, Yao W, Yang Y, Xiong T.   +7 more
europepmc   +1 more source