Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Tan Q, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Network U, Shashi V, Pena L, Alejandro M, Azamian M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Goldman A, Hanchard N, Jamal F, Karaviti L, Lalani S, Lee B, Lewis R, Marom R, Moretti P, Murdock D, Nicholas S, Orange J, Orengo J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Cope H, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Tan Q, Walley N, Aaron A, Beggs A, Berry G, Briere L, Cooper C, Donnell-Fink L, Fieg E, High F, Korrick S, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walker M, Walsh C, Esteves C, Glanton E, Holm I, Kohane I, McCray A, Might M, LeBlanc K, Bick D, Birch C, Boone B, Brown D, Dorset D, Jones A, Lazar J, Levy S, May T, Newberry J, Worthey E, Batzli G, Colley H, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Bonner D, Coakley T, Davidson J, Dries A, Enns G, Fernandez L, Fisher P, Friedman N, Hom J, Huang Y, Kohler J, Majcherska M, Marwaha S, McCormack C, Merker J, Reuter C, Sampson J, Smith K, Waggott D, Wheeler M, Zastrow D, Zhao C, Allard P, Barseghyan H, Butte M, Dell'Angelica E, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Lee H, Loo S, Martin M, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Signer R, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Behnam B, Burke E, D'Souza P, Davids M, Draper D, Estwick T, Ferreira C, Godfrey R, Groden C, Johnston J, Lau C, Macnamara E, Maduro V, Markello T, Morimoto M, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sharma P, CamiloToro, Wahl C, Yu G, Gropman A, Baker E, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Yang J, Postlethwait J, Westerfield M, Bican A, Brokamp E, Duncan L, Hamid R, Kozuira M, Newman J, Phillips J, Rives L, Robertson A, Shakachite L, Cogan J. Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features. Molecular Case Studies 2018, 4: a003046. PMID: 29970384, PMCID: PMC6169826, DOI: 10.1101/mcs.a003046.Peer-Reviewed Original ResearchConceptsShwachman-Diamond syndromeBone marrow abnormalitiesShwachman-DiamondPediatric patientsClinical featuresPancreatic insufficiencyDe novo variantsLike syndromeMarrow abnormalitiesMetaphyseal abnormalitiesPathogenic variantsBiallelic variantsMetaphyseal dysplasiaWhole-exome sequencing dataNovo variantsRecent evidenceEquivocal evidenceCausative genesPatientsPhenotypic featuresSyndromeAbnormalitiesPhenotypeFurther evidenceInitial indication
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