Clinical and genetic characterization of Weaver syndrome: A case report of an EZH2 mutation and review of the literature. [PDF]
Medicine (Baltimore)Ren L +5 more
europepmc +1 more source
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report. [PDF]
Transl PediatrLiu Y, Zhang J, Leng J, Gou P, Cheng X.
europepmc +1 more source
Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report. [PDF]
CureusJoy P +7 more
europepmc +1 more source
Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome. [PDF]
Mol CytogenetMartineau R +4 more
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ASXL3 gene variants causing Bainbridge-Ropers syndrome: clinical and genetic analysis of four Chinese patients. [PDF]
Front NeurosciYang Q +7 more
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Case Report: Identification of a <i>de novo</i> missense variant in the N-terminal zinc-finger domain of <i>ZEB2</i> in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections. [PDF]
Front GenetChen J +8 more
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Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia. [PDF]
Front PhysiolTran AJ +7 more
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Hypertelorism in Several Generations [PDF]
Archives of Disease in Childhood, 1927 openaire +2 more sources