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Quoted phrase not found in phrase index: "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies"
Page 1
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Meyer R, et al. Clin Genet. 2020 Oct;98(4):408-412. doi: 10.1111/cge.13819. Epub 2020 Aug 19. Clin Genet. 2020. PMID: 32720325
De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (intellectual developmental disorder with speech delay, autism, and dysmorphic facies [IDDSADF, OMIM: #6 …
De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (intellectual …
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.
Zhao P, Meng Q, Wan C, Lei T, Zhang L, Zhang X, Tan L, Zhu H, He X. Zhao P, et al. Neurogenetics. 2023 Apr;24(2):129-136. doi: 10.1007/s10048-023-00713-z. Epub 2023 Feb 21. Neurogenetics. 2023. PMID: 36802310
CNOT3 is the central component of the CCR4-NOT protein complex, which is a global regulator of RNA polymerase II transcription. Loss of function mutations in CNOT3 lead to intellectual developmental disorder with speech delay, autism, and …
CNOT3 is the central component of the CCR4-NOT protein complex, which is a global regulator of RNA polymerase II transcription. Loss of func …
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 …
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 …
Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder.
Lohiya N, Chalipat S, Lohiya N, Malwade S. Lohiya N, et al. J Pediatr Rehabil Med. 2022;15(3):529-532. doi: 10.3233/PRM-210050. J Pediatr Rehabil Med. 2022. PMID: 35754295
PURPOSE: Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congenital malformations, intellectual developmental disorder, behavioral issues, and speech and language im …
PURPOSE: Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congeni …
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.
Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B. Battaglia A, et al. Am J Med Genet A. 2009 Jun;149A(6):1200-4. doi: 10.1002/ajmg.a.32847. Am J Med Genet A. 2009. PMID: 19449418
Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2-p12.2 in a patient with developmental delay (DD) and dysmorphic features. This deletion arose de novo and is flanked by segmental duplications. ...Results of DNA …
Using aCGH, we have identified a pericentromeric deletion, spanning about 8.2 Mb, within 16p11.2-p12.2 in a patient with developmental …