Results 261 to 270 of about 89,824 (342)

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

open access: yesClinical Genetics, EarlyView.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò   +57 more
wiley   +1 more source

Copy Number Variants and their Implications for Developmental and Behavioural Problems in Cleft Lip and/or Palate

open access: yes
Rammos A   +14 more
europepmc   +1 more source

Assessment of level of knowledge and satisfaction of website about cleft lip and palate. [PDF]

open access: yesCodas
Picinato-Pirola M   +4 more
europepmc   +1 more source

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency

open access: yesClinical Genetics, EarlyView.
BMP2 haploinsufficiency is known to be associated with short stature, skeletal malformations, specific craniofacial traits and cardiac malformations. This study including individuals with predicted BMP2 haploinsufficiency provides additional insight regarding less established and sometimes controversial phenotypes such as degree of developmental delay,
Elin Stavrén‐Eriksson   +5 more
wiley   +1 more source

Mongolian spots associated with cleft lip

open access: bronze, 1989
Sotaro Kurata   +5 more
openalex   +1 more source

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