Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

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منابع مشابه

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

BACKGROUND Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that a defect of the central apical ectodermal ridge leads to the phenotype. Although six diff...

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Tibial hemimelia with separate soft-tissue cover of the tibia and fibula.

We report a variant of tibial hemimelia in a six-year-old boy that did not comply with recognised classification systems. The femur and knee were normal, but the fibula was displaced proximally and there was severe diastasis of the proximal and distal tibiofibular joints to the extent that a grossly deformed foot articulated with the fibula and there was separate soft-tissue cover for the dista...

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Femoral bifurcation with ipsilateral tibia hemimelia: early outcome of ablation and prosthetic fitting.

Femoral bifurcation and tibia hemimelia are rare anomalies. Hereby, we present a case report of a 2-year-old boy who first presented in our orthopedic clinic as a 12-day-old neonate, with a grossly deformed right lower limb from a combination of complete tibia hemimelia and ipsilateral femoral bifurcation. Excision of femoral exostosis, knee disarticulation and prosthetic fitting gives satisfac...

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Mendelian and Non-Mendelian Quadratic Operators

In this paper, we attempt to provide mathematical models of Mendelian and Non-Mendelian inheritances of the bisexual population system having Fisher’s 1:1 principle. In our model, we always assume that distributions of the same phenotype of female and male populations are equal. We study the evolution of a Mendelian trait. As an application of a non-Mendelian inheritance, we construct a quadrat...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2011

ISSN: 0022-2593,1468-6244

DOI: 10.1136/jmedgenet-2011-100409