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UnknownA maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.
Not available
S-EPMC2922899 | biostudies-literature
UnknownImpact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees.
Not available
S-EPMC9082060 | biostudies-literature
UnknownTwo novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
Not available
S-EPMC2710449 | biostudies-literature
UnknownCongenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Not available
S-EPMC5875720 | biostudies-literature
UnknownNovel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
Not available
S-EPMC2785435 | biostudies-literature
UnknownTwo missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Not available
S-EPMC6238016 | biostudies-literature
UnknownA review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.
Not available
S-EPMC13628979 | biostudies-literature
UnknownExpanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
Not available
S-EPMC10369588 | biostudies-literature
UnknownExome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome.
Not available
S-EPMC9421682 | biostudies-literature
UnknownNovel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Not available
S-EPMC3581754 | biostudies-literature
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