research Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
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research Conditional Disruption of Hedgehog Signaling Pathway Defines Its Critical Role in Hair Development and Regeneration
The hedgehog signaling pathway is crucial for hair growth but not for the initial creation of hair follicles.
research Editor's Evaluation: Lhx2 Is a Progenitor-Intrinsic Modulator of Sonic Hedgehog Signaling During Early Retinal Neurogenesis
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
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