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UnknownBarth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
Not available
S-EPMC2995309 | biostudies-literature
UnknownComplex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Not available
S-EPMC1785342 | biostudies-literature
UnknownDefective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Not available
S-EPMC6506757 | biostudies-literature
Unknownp63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Not available
S-EPMC1235479 | biostudies-literature
UnknownHUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Not available
S-EPMC5788272 | biostudies-literature
UnknownPrenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Not available
S-EPMC6386638 | biostudies-literature
UnknownMolecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Not available
S-EPMC1199298 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
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