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Quoted phrase not found in phrase index: "Hennekam lymphangiectasia-lymphedema syndrome 3"
Page 1
An approach to familial lymphoedema.
Jones GE, Mansour S. Jones GE, et al. Clin Med (Lond). 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. Clin Med (Lond). 2017. PMID: 29196357 Free PMC article. Review.
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.
Scheuerle AE, Sweed NT, Timmons CF, Smith ED, Alcaraz WA, Shinde DN. Scheuerle AE, et al. Am J Med Genet A. 2018 Dec;176(12):2858-2861. doi: 10.1002/ajmg.a.40633. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450763
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. ... …
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with ch …
In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K, Wu Y, Rehman HM, Xiao N, Bolkov M, Tuzankina I, Chereshnev V. Shinwari K, et al. BMC Bioinformatics. 2023 Jun 15;24(1):251. doi: 10.1186/s12859-023-05361-6. BMC Bioinformatics. 2023. PMID: 37322437 Free PMC article.
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations in a few genes including ADAMTS3. ...Modelling of the protein shows it can be divided into segments 1, 2 and 3, which are connected …
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 (HKLLS3) is a rare genetical disorder caused by mutations …
Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.
Fattorusso A, Pieri ES, Dell'Isola GB, Prontera P, Mencaroni E, Stangoni G, Esposito S. Fattorusso A, et al. Medicine (Baltimore). 2020 Jul 2;99(27):e20995. doi: 10.1097/MD.0000000000020995. Medicine (Baltimore). 2020. PMID: 32629717 Free PMC article.
IL is classified as primary and secondary types. PATIENT CONCERNS: A 3-month-old girl born at term from vaginal delivery with an APGAR score of 10/10 and birth weight of 4.310 g (>97 percentile) was admitted to our hospital because of increasing abdominal tenderness and …
IL is classified as primary and secondary types. PATIENT CONCERNS: A 3-month-old girl born at term from vaginal delivery with an APGA …
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Boone PM, et al. Am J Med Genet A. 2020 Jan;182(1):189-194. doi: 10.1002/ajmg.a.61392. Epub 2019 Oct 21. Am J Med Genet A. 2020. PMID: 31633297 Free PMC article.
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable intellectual disability. ...In a patient with clinically diagnosed He …
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lym …
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Crawford J, Bower NI, Hogan BM, Taft RJ, Gabbett MT, McGaughran J, Simons C. Crawford J, et al. Am J Med Genet A. 2016 Oct;170(10):2694-7. doi: 10.1002/ajmg.a.37803. Epub 2016 Jun 27. Am J Med Genet A. 2016. PMID: 27345729
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mutations in CCBE1. ...Analysis of four family members showed that both affected brothers had the same rare compound heterozygous mutations in …
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder, with 25% of patients having mu …