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Quoted phrase not found in phrase index: "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies"
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmüller J, Li Y, Wollnik B, Hoganson G, Plona MR, Cho MT; Deciphering Developmental Disorders Study; Thiel CT, Lüdecke HJ, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A. Vasileiou G, et al. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429572 Free PMC article.
Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. Here, we report eight heterozygous de novo variants (one frames …
Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with …
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. Kleyner R, et al. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900361 Free PMC article.
We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis. ...Before molecular diagnosis, thi …
We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmen …
Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
van Balkom ID, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. van Balkom ID, et al. J Intellect Disabil Res. 2011 Oct;55(10):973-87. doi: 10.1111/j.1365-2788.2011.01451.x. Epub 2011 Jul 26. J Intellect Disabil Res. 2011. PMID: 21790824
BACKGROUND: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. ...There was severe delay of speech and motor milestones, a frien …
BACKGROUND: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental de …