Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature. [PDF]
Liu L, Lv Y, Zhou X.
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Thumb Duplication (Wassel Type IIB): A Rare Case Report Highlighting Surgical Strategy and Functional Outcomes. [PDF]
Hanawi MD +6 more
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Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype. [PDF]
Tang J +5 more
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Bardet-Biedl syndrome in two sibling pairs: a case series. [PDF]
Aziz A +8 more
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Bilateral Postaxial Polydactyly of the Feet in an Adult: Surgical Management and Outcomes. [PDF]
Aljefri A +4 more
europepmc +1 more source
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report. [PDF]
Liu Y, Zhang J, Leng J, Gou P, Cheng X.
europepmc +1 more source
Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study. [PDF]
Liu X +6 more
europepmc +1 more source
De Visschere, Pieter, Seynaeve, Patrick
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A Rare Case of Prenatal Short-Rib Thoracic Dysplasia 11 Subtype With Compound Heterozygous Variants in the <i>DYNC2I2</i> Gene: Presenting Polydactyly and Shortened Limbs. [PDF]
Wang Z +6 more
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Congenital malformation risk following prenatal antipsychotic exposure: a systematic safety surveillance approach. [PDF]
Straub L +10 more
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