NCV ND Normal patterns EMG ND Normal patterns As worth spasticity UL / IL 4 UL 1+ / IL 2 indexUL 2 /IL 4 c.140T>C c.609C> PLP1 molecular (p.I47T) T (p.Q99X) analysis hemizygous hemizygous
Paraclinical evaluation 2.
Afterwards, testing for Fabry disease was performed: alpha-galactosidase level was decreased (0.06 nmol/spot/21 h; normal range >0.12 nmol/spot/21 h), lyso-GL-3 was increased (36.1 ng/mL; normal range 0.0-3.5 ng/mL), and a hemizygous
mutation was detected (c.[902G>T]) (Figures 2(a)-2(c)) .
In addition, promoter hypermethylation and hemizygous
deletion of KLF4 are also reported by researchers, leading to its expression suppression .
mutations of AVPR2 were identified in all three male patients (Figure 2).
Hasegawa, "Syndromic disorder of sex development due to a novel hemizygous
mutation in the carboxyl-terminal domain of ATRX," Human Genome Variation, vol.
Male family members with the hemizygous
mutation in the PLS3 gene usually present osteoporosis and fractures of the axial and appendicular skeleton in childhood, while female family members with heterozygous mutations have a wide variety of presentations, ranging from normal bone density and an absence of fractures to early-onset osteoporosis and vertebral compression fractures [2-6].
W.) Chiang et al., "The effect on retinal structure and function of 15 specific ABCA4 mutations: a detailed examination of 82 hemizygous
patients," Investigative Ophthalmology & Visual Science, vol.
Moreover, the putative skewing toward the mutated X chromosome found in the hippocampus of heterozygous females (decreased levels of Cdkl5 ~ 36%) could explain the severe phenotypic outcome in hippocampus-dependent behaviors that is more similar to homozygous Cdkl5 KO female and hemizygous
Cdkl5 KO male mice (Table 1) [20, 35, 61].
Interestingly, ATM maps on chromosome 11q whose hemizygous
deletion, together with the loss of chromosome 1p , the gain of chromosome 17q , and the amplification of both MYCN  and ALK [35, 36], is a well-established marker of NB poor prognosis.
D + fathers, noninvasive prenatal testing (NIPT) is required for further analysis.
HIF [sup]flox/- mice were bred with muscle creatine kinase ( MCK )- Cre [sup]+ hemizygous
mice to create HIF [sup]flox/- Cre [sup]+ mice.
[gp91.sup.phox-/y] mice (Nox2 knockout (#2365), C57BL/6 background, Jackson Laboratories, Bar Harbor, ME) were generated as described previously  and C57BL/6 mice were used as the corresponding wild type controls.