Syndactyly, micrognathia and skeletal anomalies: a new syndrome?

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Clinical genetics·2016

Dysmorphology services: a snapshot of current practices and a vision for the future.

Clinical genetics·2015

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Clinical genetics·2014

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

European journal of neurology·2013

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

American journal of medical genetics. Part C, Seminars in medical genetics·2013

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical genetics·2012

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical dysmorphology·2026

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology·2026

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology·2026

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Clinical dysmorphology·2026

Blastemal-Predominant Primary Extrarenal Nephroblastoma Associated with Lumbosacral Lipomeningocele in an Infant: A Case Report and Focused Review.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·2026

Intravenously delivered multilineage-differentiating stress-enduring cells dampen hyperoxia-induced lung injury in a rat model with features of bronchopulmonary dysplasia.

Stem cell research & therapy·2026

Diagnostic Course and Clinical Characteristics of Severe Cerebral Palsy Associated With Perinatal Cerebral Infarction: A Nationwide Registry-Based Study in Japan.

The journal of obstetrics and gynaecology research·2026

Insulin/C-peptide interpretation in Infants with Hypoglycaemia of Unknown Origin.

Annals of clinical biochemistry·2026

National trends in neonatal diagnoses recorded at hospital discharge in Kazakhstan, 2014-2024.

BMJ paediatrics open·2026

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Prenatal diagnosis·2026

Related Experiment Videos

Syndactyly, micrognathia and skeletal anomalies: a new syndrome?

Related Concept Videos

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Blastemal-Predominant Primary Extrarenal Nephroblastoma Associated with Lumbosacral Lipomeningocele in an Infant: A Case Report and Focused Review.

Intravenously delivered multilineage-differentiating stress-enduring cells dampen hyperoxia-induced lung injury in a rat model with features of bronchopulmonary dysplasia.

Diagnostic Course and Clinical Characteristics of Severe Cerebral Palsy Associated With Perinatal Cerebral Infarction: A Nationwide Registry-Based Study in Japan.

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National trends in neonatal diagnoses recorded at hospital discharge in Kazakhstan, 2014-2024.

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Related Experiment Videos

Syndactyly, micrognathia and skeletal anomalies: a new syndrome?

Abstract:

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