PubMed for id: 871371

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Year	Number of Results
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[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion].

Arroyo-Carrera I, Romero-Peguero R, Martín-Fernández R, Ramajo-Polo A, García-Navas Núñez V. Arroyo-Carrera I, et al. Rev Neurol. 2024 Jun 1;78(11):323-326. doi: 10.33588/rn.7811.2024057. Rev Neurol. 2024. PMID: 38813790 Free article. Spanish.

[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].

Avila-Jaque D, Díaz C, Pardo R. Avila-Jaque D, et al. Andes Pediatr. 2024 Apr;95(2):196-201. doi: 10.32641/andespediatr.v95i2.4820. Epub 2024 Apr 13. Andes Pediatr. 2024. PMID: 38801368 Free article. Spanish.

Macrocephaly and Finger Changes: A Narrative Review.

Lazea C, Vulturar R, Chiș A, Encica S, Horvat M, Belizna C, Damian LO. Lazea C, et al. Int J Mol Sci. 2024 May 20;25(10):5567. doi: 10.3390/ijms25105567. Int J Mol Sci. 2024. PMID: 38791606 Free PMC article. Review.

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.

Toskov V, Kaiser-Labusch P, Lee-Kirsch MA; PRIM1 study group; Ehl S, Wegehaupt O. Toskov V, et al. J Clin Immunol. 2024 May 22;44(6):129. doi: 10.1007/s10875-024-01733-6. J Clin Immunol. 2024. PMID: 38773012 Free PMC article.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Zheng J, Gu M, Xiao S, Li C, Mi H, Xu X. Zheng J, et al. BMC Pediatr. 2024 May 6;24(1):309. doi: 10.1186/s12887-024-04779-y. BMC Pediatr. 2024. PMID: 38711130 Free PMC article. Review.

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.

Ventresca S, Lepri FR, Criscuolo S, Bottaro G, Novelli A, Loche S, Cappa M. Ventresca S, et al. Front Endocrinol (Lausanne). 2024 Mar 26;15:1364234. doi: 10.3389/fendo.2024.1364234. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38596219 Free PMC article.

Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.

Yang L, Shannon P, Silver R, Roifman M, Yates C, Chitayat D. Yang L, et al. Prenat Diagn. 2024 May;44(5):653-656. doi: 10.1002/pd.6543. Epub 2024 Mar 19. Prenat Diagn. 2024. PMID: 38504427

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Bhat S, et al. Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503299

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Am J Med Genet A. 2024 Jul;194(7):e63559. doi: 10.1002/ajmg.a.63559. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421105 Free article.

Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.

Tomai XH, Nguyen HT, Nguyen Thi TT, Nguyen TA, Nguyen TV. Tomai XH, et al. J Med Case Rep. 2024 Feb 13;18(1):90. doi: 10.1186/s13256-024-04361-1. J Med Case Rep. 2024. PMID: 38347602 Free PMC article.

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