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UnknownCerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
Not available
S-EPMC5567146 | biostudies-literature
UnknownBi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Not available
S-EPMC10772072 | biostudies-literature
UnknownThe Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Not available
S-EPMC11973018 | biostudies-literature
UnknownLarge-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
Not available
S-EPMC1235547 | biostudies-literature
UnknownMutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Not available
S-EPMC4970687 | biostudies-literature
UnknownSex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Not available
S-EPMC5567159 | biostudies-literature
UnknownAnatomical and functional abnormalities on MRI in kabuki syndrome.
Not available
S-EPMC6413468 | biostudies-literature
UnknownHNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Not available
S-EPMC6556882 | biostudies-literature
UnknownPathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Not available
S-EPMC11554955 | biostudies-literature
UnknownFAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Not available
S-EPMC3035709 | biostudies-literature
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