Clinical Dysmorphology

We #publish articles on the aetiology, clinical delineation and genomics of single or multiple congenital anomaly syndromes.

[Clinical Dysmorphology @ClinDysmo]

Familiar case of a #microdeletion including #genes TBC1D24 and ATP6V0C causing developmental delay, microcephaly, and seizures
https://t.co/4ak9oydL40

[Clinical Dysmorphology @ClinDysmo]

Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly #syndrome (ACCES) in an Indian family
https://t.co/3ANPwpfMOa

[Clinical Dysmorphology @ClinDysmo]

Dual genetic #diagnosis of Mitchell–Riley #syndrome and Temple syndrome in a neonate
https://t.co/YkZkBmOVLf

[Clinical Dysmorphology @ClinDysmo]

Literature #review of Agenesis of corpus callosum, cardiac, ocular, and genital #syndrome (ACOGS) caused by de-novo CDH2 #gene variants
https://t.co/X5yggmXr3H

[Clinical Dysmorphology @ClinDysmo]

A report of novel PCDH12 #variant causing clinical and neuroimaging variability in two siblings
https://t.co/T5NIqOkHBL

[Clinical Dysmorphology @ClinDysmo]

A case with novel #phenotypic features of NHP2-related dyskeratosis congenita, a rare genetic disorder of impaired telomere maintenance leading to shortened telomere length
https://t.co/WhTzWA9KJa

[Clinical Dysmorphology @ClinDysmo]

A report of a 21-year-old woman with Gabriele-de Vries #syndrome and autoimmune hypothyroidism
https://t.co/l1a2WAuBwZ

[Clinical Dysmorphology @ClinDysmo]

A Report of TUBB3 R262H #syndrome, an extremely rare tubulinopathy, in a neonate with ptosis and vocal cord palsy
https://t.co/jXOBE0HMUK

[Clinical Dysmorphology @ClinDysmo]

A literature review of the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant
https://t.co/PtzFwmo5RY

[Clinical Dysmorphology @ClinDysmo]

A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge–Janssens #syndrome type 2
https://t.co/TgXLt967Gi

[Clinical Dysmorphology @ClinDysmo]

first report of sudden infant death in a neonate with X-linked #intellectual disability type Nascimento caused by UBE2A deletion
https://t.co/f4IqESkQx9

[Clinical Dysmorphology @ClinDysmo]

A girl with a de novo PPP2R5D W207R pathogenic variant with occipital #encephalocele
https://t.co/9UCjiaiFbt

[Clinical Dysmorphology @ClinDysmo]

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins #syndrome
https://t.co/Q39J0ulu7B

[Clinical Dysmorphology @ClinDysmo]

Greig cephalopolysyndactyly #syndrome co-occurring with sickle cell anemia in a Congolese patient
https://t.co/9UuGM00ph5

[Clinical Dysmorphology @ClinDysmo]

Autosomal recessive renal tubular #dysgenesis: #antenatal ultrasound scanning and molecular investigations
https://t.co/ioOGGleh7i

[Clinical Dysmorphology @ClinDysmo]

Cerebellar infarction due to atlantoaxial subluxation in #spondyloepimetaphyseal dysplasia-joint laxity type 1 case
https://t.co/P0jcA1E5TZ

[Clinical Dysmorphology @ClinDysmo]

Biallelic variants in the AGRN gene in a nonconsanguineous couple with recurrent pregnancy losses and fetal akinesia #deformation sequence
https://t.co/FbunVCQwc0

[Clinical Dysmorphology @ClinDysmo]

A cohort of nine Egyptian individuals with fibrodysplasia ossificans progressiva, caused by monoallelic variants in the ACVR1 gene
https://t.co/E2i2j6GRHQ

[Clinical Dysmorphology @ClinDysmo]

13 years’-long follow-up of an individual with interstitial 3p25.3 deletion #syndrome
https://t.co/AwpJ37H8jk

[Clinical Dysmorphology @ClinDysmo]

A novel de-novo heterozygous missense variant in the U2AF2 gene in a patient with epilepsy, global developmental delay, facial #dysmorphism, and short stature
https://t.co/28gMr0lyCu