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10.1038/sj.ejhg.5200915 http://scihub22266oqcxt.onion/10.1038/sj.ejhg.5200915 12529711!ä!12529711 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Hum+Genet 2003 ; 11 (1): 85-8 Nephropedia Template TP {{tp|p=12529711|t=2003. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning |pdf=|usr=}}{{12529711}} gab.com Text PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=12529711 #FOAvip Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2 on 12q24, were identified in 50% of analysed Noonan cases. A large four-generation Belgian family with NS and some features suggestive of cardio-facio-cutaneous syndrome (CFC) was previously used to fine map the Noonan syndrome candidate region to a 5 cM region in 12q24. We now report the identification of a mutation (Gln79Arg) in the PTPN11 gene in this large family. In D. melanogaster and C. elegans the PTPN11 gene has been implicated in oogenesis. In this family two affected females had dizygous twins. This suggests that PTPN11 might also be involved in oogenesis and twinning in humans. Twit Text FOAVip PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=12529711 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=12529711 #FOAvip English Wikipedia <ref>{{Cite pmid|12529711}}</ref> PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning #MMPMID12529711 Schollen E; Matthijs G; Gewillig M; Fryns JP; Legius E Eur J Hum Genet 2003[Jan]; 11 (1): 85-8 PMID12529711show ga Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2 on 12q24, were identified in 50% of analysed Noonan cases. A large four-generation Belgian family with NS and some features suggestive of cardio-facio-cutaneous syndrome (CFC) was previously used to fine map the Noonan syndrome candidate region to a 5 cM region in 12q24. We now report the identification of a mutation (Gln79Arg) in the PTPN11 gene in this large family. In D. melanogaster and C. elegans the PTPN11 gene has been implicated in oogenesis. In this family two affected females had dizygous twins. This suggests that PTPN11 might also be involved in oogenesis and twinning in humans. |*Mutation[MESH] |Belgium[MESH] |Chromosomes, Human, Pair 12/genetics[MESH] |DNA Mutational Analysis[MESH] |Exons[MESH] |Female[MESH] |Humans[MESH] |Intracellular Signaling Peptides and Proteins[MESH] |Male[MESH] |Noonan Syndrome/*genetics[MESH] |Pedigree[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11[MESH] |Protein Tyrosine Phosphatases/*genetics[MESH]PTPN11 mutation in a large family with Noonan syndrome and dizygous tw(epmc).pdf DeepDyve Pubget Overpricing