Results 241 to 250 of about 66,364 (302)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]

Mol Genet Genomic Med
Niu M, Wang D, Jia S.
europepmc   +1 more source

Prevalence and risk factors of gross neurologic deficits in children after severe malaria: A systematic review and meta-analysis. [PDF]

PLoS One
Okullo AE, Ouma S, John CC, van Hensbroek MB, Ojiambo KO, Otike C, Kinengyere AA, Conroy AL, Ocan M, Obuku EA, Idro R.   +10 more
europepmc   +1 more source

Acute Reversible Convergent Strabismus Following Accidental Lorazepam Ingestion in a Child: A Rare Ocular Manifestation of Benzodiazepine Toxicity. [PDF]

Cureus
El Athmani O, Debono L, Jeddi Y, Mekaoui N, Karboubi L.   +4 more
europepmc   +1 more source

Early muscle hypotonia as a potential marker for autism spectrum disorder: a systematic review. [PDF]

Front Psychiatry
Zhang T, Wang J, Cao Z, Ma Y, Lv Z.
europepmc   +1 more source

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy. [PDF]

Neurology
Nguyen JNH, Lachgar-Ruiz M, Higginbotham EJ, Coleman M, Coleman J, Shao W, Scotchman E, Pritchard AJ, Bell KM, Chitty LS, Christodoulou J, De Fazio P, Deshwar AR, Eltze C, Griffiths AJS, Hassell J, Jain P, Kaliakatsos M, Liang NSY, Lombard P, Marshall CR, Marx C, McRae L, Mulhern S, Paternoster B, Perez Caballero A, Pipko N, Sidhu J, Smith L, Stark Z, Trost B, Wakeling E, White SM, Yoong M, Gene-STEPS Study Group, IPCHiP Executive Committee,, Chandler NJ, Cross JH, Scheffer IE, Chau V, Poduri A, Howell KB, Stephenson SEM, McTague A, Costain G, D'Gama AM.   +45 more
europepmc   +1 more source

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source