CNOT3-related neurodevelopmental #disorder in Southeast Asia, expanding the phenotype to include progressive aortic dilatation journals.lww.com/clindysmorphol…

Two new cases of Meier–Gorlin #syndrome type 7: a rare cause of primordial dwarfism journals.lww.com/clindysmorphol…

A novel de-novo heterozygous missense variant in the U2AF2 gene in a patient with epilepsy, global developmental delay, facial #dysmorphism, and short stature journals.lww.com/clindysmorphol…

13 years’-long follow-up of an individual with interstitial 3p25.3 deletion #syndrome journals.lww.com/clindysmorphol…

A cohort of nine Egyptian individuals with fibrodysplasia ossificans progressiva, caused by monoallelic variants in the ACVR1 gene journals.lww.com/clindysmorphol…

Biallelic variants in the AGRN gene in a nonconsanguineous couple with recurrent pregnancy losses and fetal akinesia #deformation sequence journals.lww.com/clindysmorphol…

Cerebellar infarction due to atlantoaxial subluxation in #spondyloepimetaphyseal dysplasia-joint laxity type 1 case journals.lww.com/clindysmorphol…

Autosomal recessive renal tubular #dysgenesis: #antenatal ultrasound scanning and molecular investigations journals.lww.com/clindysmorphol…

Greig cephalopolysyndactyly #syndrome co-occurring with sickle cell anemia in a Congolese patient journals.lww.com/clindysmorphol…

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins #syndrome journals.lww.com/clindysmorphol…

A girl with a de novo PPP2R5D W207R pathogenic variant with occipital #encephalocele journals.lww.com/clindysmorphol…

first report of sudden infant death in a neonate with X-linked #intellectual disability type Nascimento caused by UBE2A deletion journals.lww.com/clindysmorphol…

A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens #syndrome type 2 journals.lww.com/clindysmorphol…

A literature review of the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant journals.lww.com/clindysmorphol…

A Report of TUBB3 R262H #syndrome, an extremely rare tubulinopathy, in a neonate with ptosis and vocal cord palsy journals.lww.com/clindysmorphol…

A report of a 21-year-old woman with Gabriele-de Vries #syndrome and autoimmune hypothyroidism journals.lww.com/clindysmorphol…

A case with novel #phenotypic features of NHP2-related dyskeratosis congenita, a rare genetic disorder of impaired telomere maintenance leading to shortened telomere length journals.lww.com/clindysmorphol…

A report of novel PCDH12 #variant causing clinical and neuroimaging variability in two siblings journals.lww.com/clindysmorphol…

Literature #review of Agenesis of corpus callosum, cardiac, ocular, and genital #syndrome (ACOGS) caused by de-novo CDH2 #gene variants journals.lww.com/clindysmorphol…

Dual genetic #diagnosis of Mitchell–Riley #syndrome and Temple syndrome in a neonate journals.lww.com/clindysmorphol…