Associated Papers
Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.
Babazade A et al.
American Journal of Medical Genetics. Part A, 2025
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.
Fang D et al.
Frontiers in Genetics, 2024
Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.
Fang X et al.
Frontiers in Genetics, 2024
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.
Matoba K et al.
Neurology. Genetics, 2022
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T et al.
Clinical Genetics, 2016
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M et al.
Human Genetics, 2015
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E et al.
Human Genetics, 2014
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C et al.
Neurogenetics, 2013
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