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Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability.
Emre Kirat, Hatice Mutlu Albayrak, Bahtiyar Sahinoglu, Abdullah Ihsan Gurler, Kadri Karaer
Clinical dysmorphology 2020 Jul
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Citation
Emre Kirat, Hatice Mutlu Albayrak, Bahtiyar Sahinoglu, Abdullah Ihsan Gurler, Kadri Karaer.
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability.
Clinical dysmorphology.
2020 Jul;29(3):137-140
Mesh Tags
Child, Preschool
Craniofacial Abnormalities
Dwarfism
Female
Humans
Infant, Newborn
Limb Deformities, Congenital
Male
Maxillofacial Abnormalities
RNA Splicing
Receptor Tyrosine Kinase-like Orphan Receptors
Spine
Urogenital Abnormalities
Young Adult
Substances
ROR2 protein, human
Receptor Tyrosine Kinase-like Orphan Receptors
PMID: 32195677
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