Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel missense variant in CHD7, a rare cause of CHARGE syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and psychiatric or behavioural abnormalities, have also been described. Here, we report on two siblings with substantial intrafamilial phenotypic variability carrying a heterozygous deletion of the 1q21.1 region spanning a known critical genomic area (~1.35 Mb). The microdeletion was inherited from the unaffected father. Patients described here show a spectrum of clinical feature...
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families
The objective of the present study is to identify the genetic basis in patients with digital clubbing due to PHO. We performed detailed clinical and radiographic evaluation and exome sequencing in patients from three unrelated Indian families with PHO. Exome sequencing revealed two novel, c.34G>A (p.Gly12Ser) and c.313C>T (p.Gln105*) and a known variant, c.418G>C (p.Ala140Pro) in HPGD. Herein, we add three Indian families to HPGD mutation spectrum and review the literature on variants in this gene. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Phenotypic variability in Muenke syndrome-observations from five Danish families: Erratum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Erratum Source Type: research
Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
