Purpose.: To describe the genotype-phenotype relationship of a cohort of consecutive
patients with isolated ectopia lentis (EL) secondary to ADAMTSL4 and FBN1 mutations …

Background To characterise the phenotype and genetic defects of isolated ectopia lentis
(IEL) and to determine the ADAMTSL4 gene mutation frequencies in a Chinese congenital …

Myxomatous mitral valve disease (MMVD) is the single most common acquired heart
disease of the dog and is particularly common in small pedigree breed dogs such as the …

Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies.
Among them, several involve mutations in genes related to the TGFb signaling pathway, a …

Idiopathic pulmonary arterial hypertension (IPAH) and chronic thromboembolic pulmonary
hypertension (CTEPH) can result in right heart failure. We aimed to evaluate the plasma …

Purpose: To describe the causes of ectopia lentis (EL) and the outcomes after surgery in a
Danish population. Setting: The Eye Clinic Rigshospitalet and Kennedy Center in …

ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL),
reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma …

Background Mutations in ADAMTSL4 have recently been shown to be the major cause of
autosomal recessive isolated ectopia lentis (IEL). However, the function and ocular …

Several unique mutations of ADAMTSL4 leading to congenital ectopia lentis (CEL) have
been previously reported by our team. The purpose of this study is to find out the possible …

Materials and methods. Exon 6 of the ADAMTSL4 gene was analyzed by direct DNA
sequencing in two probands (girl 2 years old and boy 4 years old) and their mother. Results …