A challenging diagnosis of the PIK3CA-related overgrowth spectrum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Hypertension and brachydactyly syndrome: a further case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature
Conclusion
This study gave us the opportunity for an attempt to define the smallest region of overlap for frequently observed clinical findings by reviewing the literature. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum
We report the clinical and molecular characteristics of three unrelated Turkish families with four NEDMAS patients. Whole-exome sequencing was used to search for the disease-causing variant. The main manifestations of the probands are severe developmental delay and ID, thin body habitus, and severe hypotonia. Brain imaging revealed bilateral cerebral and cerebellar diffuse atrophy. Sequencing results showed that both patients carried a novel missense variant c.1196C>T (p.Thr399Met) in the seryl-tRNA synthetase gene. Our findings help expand the variant spectrum of NEDMAS and provide additional information for diagnosing ca...
Source: Clinical Dysmorphology - September 13, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Acalvaria and imperforate anus: an extremely rare association
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
