Disease: Diaphragmatic hernia exomphalos corpus callosum agenesis
- A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus
- A Case Report of Donnai-Barrow Syndrome
- A girl with G syndrome and agenesis of the corpus callosum
- A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity
- Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome
- Bartter-Like Renal Phenotype in a Child with Donnai-Barrow Syndrome
- Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with <em>Lrp2</em> Candidate Variants (Donnay-Barrow/Foar Syndrome)
- Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome
- Cauterized suture for complete tube occlusion of Ahmed glaucoma valve in hypotony maculopathy
- Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks
- Clinical phenocopies of albinism
- Cochlear implantation in Donnai-Barrow syndrome
- Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature
- Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
- Corrigendum to Flemming J, Marczenke M, Rudolph I-M, et al. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int. 2020;98:159-167
- Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance
- Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
- Donnai-Barrow Syndrome
- Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
- Donnai-Barrow syndrome: four additional patients
- Ectopic vortex veins and varices in Donnai Barrow syndrome
- Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
- Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome
- From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age
- Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome
- In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction
- INDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies
- Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome
- Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers
- LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease
- Maternal-fetal cholesterol transport in the second half of mouse pregnancy does not involve LDL receptor-related protein 2
- Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism
- Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
- Myopia control in Mendelian forms of myopia
- Neuronal megalin mediates synaptic plasticity-a novel mechanism underlying intellectual disabilities in megalin gene pathologies
- Ocular manifestations of Donnai-Barrow syndrome
- Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report
- Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome
- Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
- Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome
- Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration
- Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist
- Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
- The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome
- The genetics of common disorders - congenital diaphragmatic hernia
- The structure of megalin: shedding new light on receptor-mediated endocytosis
- Two novel variations in <em>LRP2</em> cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia
- Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia
- Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature
- Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy