Results 111 to 120 of about 1,143,678 (194)

Surgical Management of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES): A Comprehensive Review. [PDF]

Ophthalmol Ther
Wojciechowska J, Wojarska M, Drobashko A, Kępska J, Jabłoński B, Kokot K, Jankau J.   +6 more
europepmc   +1 more source

Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature. [PDF]

Int J Mol Sci
Shalata Z, Mintz H, Haddad S, Osman K, Mahroum M, Hadid Y, Shalata A.   +6 more
europepmc   +1 more source

Blepharophimosis Syndrome- A Rare Case

Journal of Medical Science And clinical Research, 2020
openaire   +1 more source

A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management. [PDF]

BMC Ophthalmol
Al Khathami A, Al Ghamdi AH.
europepmc   +1 more source

<i>De Novo ZNF292</i> Variants Cause Neurodevelopmental Disorder with Short Stature: A Clinical Case Series of Eight Individuals. [PDF]

Genes (Basel)
Shen Y, Pan R, Liu C, Zheng J, Yang X.
europepmc   +1 more source

Embryodysgenesis of the Lids and Orbit. [PDF]

Eye (Lond)
Katowitz JA, Ataei Y, Bhoj EJ, Taylor JA.   +3 more
europepmc   +1 more source

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source

Diagnostic Pitfall in Genomic Era: Discordant <i>SMARCA2</i> Finding in Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts. [PDF]

Diagnostics (Basel)
Wang CH, Lin SP, Huang JK, Chiu NC.
europepmc   +1 more source

Interplay between genomic architecture alterations and GDF6 regulation: A candidate mechanism in Nablus mask-like facial syndrome. [PDF]

HGG Adv
Bologa AM, Dimos L, Pavel AG, Stratan M, Elisabeta Bână P, Stambouli D, Butnariuc I, Truică RA, Focşa IO, Plăiașu V, Țuțulan-Cuniță A.   +10 more
europepmc   +1 more source

Blepharophimosis-epicanthus inversus-ptosis syndrome [PDF]

, 2020
openaire   +1 more source