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by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2617 - 2631
Myhre syndrome is a rare, distinctive syndrome due to specific gain‐of‐function mutations in SMAD4. The characteristic phenotype includes short stature,... 
cardiovascular malformation | pericardial effusion | coarctation | pericarditis | restrictive cardiomyopathy | SMAD4 mutations | congenital heart defect | TGF‐β signaling | TGF-β signaling | HEREDITARY HEMORRHAGIC TELANGIECTASIA | CONFIRMATION | CLINICAL-FEATURES | SHORT STATURE | FEMALE | GELEOPHYSIC DYSPLASIA | GENETICS & HEREDITY | LAPS | MULIBREY NANISM | TGF- signaling | Exons | Humans | Male | Tomography, X-Ray Computed | Cardiovascular Abnormalities - diagnosis | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Young Adult | Hand Deformities, Congenital - therapy | Smad4 Protein - genetics | Facies | Ultrasonography | Adult | Female | Growth Disorders - therapy | Child | Echocardiography | Genetic Association Studies | Cardiovascular Abnormalities - therapy | Cryptorchidism - diagnosis | Growth Disorders - diagnosis | Cardiovascular Abnormalities - genetics | In Situ Hybridization, Fluorescence | Treatment Outcome | Intellectual Disability - therapy | Magnetic Resonance Imaging | Phenotype | Hand Deformities, Congenital - genetics | Intellectual Disability - diagnosis | Adolescent | High-Throughput Nucleotide Sequencing | Mutation | Growth Disorders - genetics | Cryptorchidism - genetics | Cryptorchidism - therapy | Hypertension | Care and treatment | Genetic disorders | Mortality | Bone morphogenetic proteins | Genetic aspects | Congenital heart disease | Transforming growth factors
Journal Article
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