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Quoted phrase not found in phrase index: "Lethal congenital contracture syndrome 2"
Page 1
Disorders of nucleotide excision repair.
Rapin I. Rapin I. Handb Clin Neurol. 2013;113:1637-50. doi: 10.1016/B978-0-444-59565-2.00032-0. Handb Clin Neurol. 2013. PMID: 23622385 Review.
Its direct and indirect phenotypic consequences are rare, complex, dementing, lethal disorders of children with inadequately understood overlapping genotypes and variable severity. ...Four genes, including XPD, can cause trichothiodystrophy (TTD) with sulfur-deficient, bri …
Its direct and indirect phenotypic consequences are rare, complex, dementing, lethal disorders of children with inadequately understo …
Premature aging syndromes: From patients to mechanism.
Foo MXR, Ong PF, Dreesen O. Foo MXR, et al. J Dermatol Sci. 2019 Nov;96(2):58-65. doi: 10.1016/j.jdermsci.2019.10.003. Epub 2019 Oct 22. J Dermatol Sci. 2019. PMID: 31727429 Free article. Review.
Aging is an inevitable consequence of human life resulting in a gradual deterioration of cell, tissue and organismal function and an increased risk to develop chronic ailments. Premature aging syndromes, also known as progeroid syndromes, recapitulate many clinical …
Aging is an inevitable consequence of human life resulting in a gradual deterioration of cell, tissue and organismal function and an increas …
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Leal GF, et al. J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4. J Bone Miner Res. 2018. PMID: 29178448 Free article.
Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. ...All cases had multiple fractures. Other features ranged from pr …
Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is a …
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Narkis G, et al. Am J Hum Genet. 2007 Sep;81(3):589-95. doi: 10.1086/520770. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701904 Free PMC article.
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. ...
Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthr …
Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping".
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Superti-Furga A, et al. Am J Med Genet. 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9674906
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stuve-Wi …
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) …
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS. Oliwa A, et al. Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1. Am J Med Genet A. 2023. PMID: 36317804
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 are known t …
Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. Th …
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
Conant A, Curiel J, Pizzino A, Sabetrasekh P, Murphy J, Bloom M, Evans SH, Helman G, Taft RJ, Simons C, Whitehead MT, Moore SA, Vanderver A. Conant A, et al. J Child Neurol. 2018 Sep;33(10):642-650. doi: 10.1177/0883073818776157. Epub 2018 Jun 8. J Child Neurol. 2018. PMID: 29882456 Free PMC article.
Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. ...Serial brain magnetic resonance images revealed hypomyelination, progressive atrophy, and reduced d …
Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelin …
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. Morgan NV, et al. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826531 Free PMC article.
Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis). ...We then identified germline-inactivating mutations …
Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (pteryg …
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Narkis G, et al. Am J Hum Genet. 2007 Sep;81(3):530-9. doi: 10.1086/520771. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701898 Free PMC article.
Lethal congenital contractural syndrome (LCCS) is a severe form of arthrogryposis. ...Thus, a defect in the phosphatidylinositol pathway leading to a decrease in synthesis of PIP(2), a molecule active in endocytosis of synaptic vesicle proteins, …
Lethal congenital contractural syndrome (LCCS) is a severe form of arthrogryposis. ...Thus, a defect in the phos …