About: Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

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About: Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G Goto Sponge NotDistinct Permalink

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scientific article published on 04 September 2018

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 2018 (uk) im September 2018 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 2018 (ast) scientific article published on 04 September 2018 (en)
publication date	wds:Q58765283-04DB4C97-B7BB-4C49-A851-B8CC41A3A8AD
publication date	2018-09-04 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q58765283-A4B2AFA1-F9AC-4794-8EFE-BAF2942FBF22
language of work or name	English
exact match	wds:Q58765283-FF848C10-F15C-4578-A699-A6269ED5EEEC
exact match	https://scigraph.springernature.com/pub.10.1186/s12881-018-0672-z
cites work	wds:Q58765283-00B32333-384D-4B64-A421-D94B8A6669CB wds:Q58765283-0B7D1490-1024-476E-B475-A4D22A640CD5 wds:Q58765283-176CB75E-FA81-48EA-BAFF-E58986F43AEE wds:Q58765283-1FF72281-0D9B-4ACC-9F8C-2FCA50E559D1 wds:Q58765283-266A0ED0-210B-4AE9-89C9-0A1A4BD7E2D9 wds:Q58765283-37AF9805-F081-48D9-BB83-A66B5CEFB31B wds:Q58765283-3AF375D2-1D17-43B8-B2AB-9E3919E7FFC9 wds:Q58765283-46BE10BF-ADB3-48BF-89FB-4E2DAEA82372 wds:Q58765283-53A61F25-BDC0-4036-8882-78C7511C8EFD wds:Q58765283-56375108-AE64-4660-95F2-18C072CB4113 wds:Q58765283-5C143ED5-9FEF-4445-958A-59584768B050 wds:Q58765283-77195F0D-B32B-4B51-AB86-D84353DF4F71 wds:Q58765283-786BE2CD-9CCB-4C69-99F6-56EBA2216CBD wds:Q58765283-82E96509-8620-408B-8FB5-259CC4D45165 wds:Q58765283-83E441D9-BCF1-4AFF-9227-4A9580FB9819 wds:Q58765283-9391E8FC-F3D6-4F80-8177-84015BFBDE43 wds:Q58765283-99808AAF-A6D7-4824-A579-1EF1B23E1E00 wds:Q58765283-9BB9A64F-FF4B-49C5-80A2-5D493E9CE9BC wds:Q58765283-9E2EA763-16D4-4375-BF5D-09938667A76B wds:Q58765283-9FB44F0F-60BF-49ED-A921-570108F1E02A wds:Q58765283-A7134921-6C1F-4FCA-80A6-F647D305CB90 wds:Q58765283-B05893BD-37CD-49EB-897B-0E6885DC8AD5 wds:Q58765283-B3C7BF08-EAF9-4B06-BEC1-FAEBD1601392 wds:Q58765283-B43DA47B-584F-4B9E-97D8-598E50B3E65D wds:Q58765283-B7E58902-EB00-4F1F-8715-39024A6794C2 wds:Q58765283-D591852E-850F-4D8A-82B8-B45DD61DB198 wds:Q58765283-F091C505-6A5D-4C96-A0E7-6C6F46EE359A wds:Q58765283-F9D19541-C04D-41F5-B55D-50598658E1B9
cites work	Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA A mosaic activating mutation in AKT1 associated with the Proteus syndrome PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation The PIK3CA gene is mutated with high frequency in human breast cancers. Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes PI3K-PKB/Akt pathway Somatic Activating PIK3CA Mutations Cause Venous Malformation Germline mutation of the tumour suppressor PTEN in Proteus syndrome Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern Proposal of new category for congenital unilateral upper limb muscular hypertrophy CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity. Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis Unilateral hypertrophy of the upper extremity due to aberrant muscles Lipofibromatous hamartoma of the median nerve and its associated conditions Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing Muscle overgrowth of the upper limb in a proximo-distal gradient and concurrent hypoplasia of the index finger Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Congenital isolated upper limb hypertrophy with hand abnormality--a report of 2 cases Congenital unilateral muscle hyperplasia of the hand with ulnar deviation of the fingers An unusual association of the windblown hand with upper limb hypertrophy Association between the Prevalence of Somatic Mutations in PIK3CA Gene in Tumors and Clinical and Morphological Characteristics of Breast Cancer Patients. PIK3CA and AKT1 mutations in hidradenoma papilliferum.
author name string	wds:Q58765283-12528315-2710-46AE-AEC7-CDA57459AA95 wds:Q58765283-62396021-86DC-41DA-8DA4-46926525BA0E wds:Q58765283-81DBC26D-F503-484E-87BC-11157EE21BAB wds:Q58765283-831F70BE-D2F6-455F-959D-875F1F1D933E
author name string	Mohammad M Al-Qattan Ali Hadadi Abdullah M Al-Thunayan Ahmed A Eldali
rdfs:label	Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (en) Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (nl)
skos:prefLabel	Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (en) Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (nl)
name	Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (en) Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (nl)
author	wds:Q58765283-4AE6A243-20F6-4A6B-A66D-8288B6177F36
author	Mohammed Al Balwi
title	wds:Q58765283-CA6982B6-079E-4D9C-A399-76970E128108
title	Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G (en)
page(s)	wds:Q58765283-40B20F83-6CFB-4701-8845-E55BCDD21D75
page(s)	158
instance of	wds:Q58765283-4f826706-cceb-44af-a35b-9b54cdd2845b wds:Q58765283-DA5E14D7-4F83-4BD8-ACA5-67D23A9A3765
instance of	scholarly article case report
PubMed ID	wds:Q58765283-EE3464EF-4B13-46B8-B935-7B0A871DCD36
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/30180809
PubMed ID	30180809
published in	wds:Q58765283-55415C43-04BB-4A5D-B83F-636AD0A3008B
published in	BMC Medical Genetics
issue	wds:Q58765283-E46AF5C5-3BC6-4AB1-BCE3-8A0E41B83B6A
volume	wds:Q58765283-04AA6A41-E327-4951-A2EE-0CC14C2DB104
issue	1

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