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Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

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Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate

Clinical and genetic study of 46 Italian patients with primary lymphedema.

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Primary lymphedema is characterized by altered morphological development of lymphatic vessels causing fluid accumulation in interstitial spaces. In familial forms, it is primarily transmitted as a dominant Mendelian trait with heterozygous mutations in genes involved in lymphangiogenesis. We used

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.

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BACKGROUND Primary lymphedema covers around 10% of all lymphedema cases. Most cases segregate as an autosomal dominant trait and rarely manifest autosomal recessive inheritance. Our research aimed to map and ultimately to hunt the mutation that causes hereditary lymphedema in an extended

Candidate gene analysis in primary lymphedema.

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BACKGROUND Primary lymphedema, the accumulation of protein-rich fluid in the interstitial space, is the clinical manifestation of mutations involved in lymphatic development and function. Mutations in three genes, VEGFR3, FOXC2, and SOX18, cause primary lymphedema. However, mutations in these three

A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema.

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Objective To investigate whether lymphoedema in a Chinese family showed the hereditary and clinical characteristics of Milroy disease, an autosomal dominant form of congenital lymphoedema, typically characterized by chronic lower limb tissue swelling due to abnormal lymphatic vasculature

Penoscrotal lymphedema associated with metastatic renal cell carcinoma.

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A 64-year-old male presented with lower back pain, radiating in a sciatic-type distribution, swelling in his lower abdomen and right leg, and edema of the scrotum and penile shaft. A sonogram and CT imaging indicated an enhancing mass in the right kidney and a spinal metastasis. The right lower

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.

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OBJECTIVE To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. METHODS The patient presented at 33(+4) weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal ascites. In utero thoracocentesis was performed and

A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE.

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Milroy disease is a congenital onset lymphedema linked to FLT4 gene mutations in the tyrosine kinase domain. So far, a total of 59 different FLT4 variants have been identified. Here, we report a novel FLT4 gene mutation in a Chinese family with Milroy disease and present their clinical symptoms and

A novel FLT4 mutation identified in a patient with Milroy disease.

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Milroy disease is an autosomal dominant disorder generally presenting with below the knee lymphedema at birth. It is linked to mutations in the tyrosine kinase domain of the VEGFR3 protein which is encoded in the FLT4 gene. Here we report a case of Milroy disease in a patient with a dominant pattern

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

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Hereditary lymphedema type I (HL-I), also known as Milroy disease, is an autosomal dominant disorder characterized by typical phenotype of infantile onset lower-limb lymphedema accompanied by variable expression of recurrent episodes of cellulites, toenail changes, and papillomatosis. Mutations in

Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity.

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Mutations in the Fms-related tyrosine kinase 4 (FLT4) and forkhead box protein C2 (FOXC2) genes cause Milroy disease (MD) and lymphedema-distichiasis syndrome (LDS), respectively, but the mechanism underlying disease pathology remains unclear. Applying whole-exome sequencing to two families with

Characterization of ANGPT2 mutations associated with primary lymphedema

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Primary lymphedema is caused by developmental and functional defects of the lymphatic vascular system that result in accumulation of protein-rich fluid in tissues, resulting in edema. The 28 currently known genes causing primary lymphedema can explain <30% of cases. Angiopoietin 1 (ANGPT1) and

A novel VEGFR3 mutation causes Milroy disease.

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Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are typically characterized by congenital onset of lymphedema of the lower limbs due to hypoplasia of the lymphatic vessels. The

Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.

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The lymphatic vasculature is essential for the recirculation of extracellular fluid, fat absorption, and immune function and as a route of tumor metastasis. The dissection of molecular mechanisms underlying lymphangiogenesis has been accelerated by the identification of tissue-specific lymphatic

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.

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Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3),

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